ABCC8 p.Glu268Lys
| Predicted by SNAP2: | A: N (93%), C: N (61%), D: N (93%), F: D (53%), G: N (78%), H: N (78%), I: N (78%), K: N (93%), L: N (78%), M: N (78%), N: N (87%), P: N (61%), Q: N (93%), R: N (82%), S: N (93%), T: N (93%), V: N (82%), W: D (53%), Y: N (57%), |
| Predicted by PROVEAN: | A: N, C: D, D: N, F: D, G: D, H: N, I: D, K: N, L: D, M: D, N: N, P: N, Q: N, R: N, S: N, T: N, V: D, W: D, Y: D, |
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[hide] Molecular genetic testing of patients with monogen... Mol Genet Metab. 2015 Mar;114(3):451-8. doi: 10.1016/j.ymgme.2014.12.304. Epub 2014 Dec 20. Bennett JT, Vasta V, Zhang M, Narayanan J, Gerrits P, Hahn SH
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.
Mol Genet Metab. 2015 Mar;114(3):451-8. doi: 10.1016/j.ymgme.2014.12.304. Epub 2014 Dec 20., [PMID:25555642]
Abstract [show]
Genetic sequencing has become a critical part of the diagnosis of certain forms of pancreatic beta cell dysfunction. Despite great advances in the speed and cost of DNA sequencing, determining the pathogenicity of variants remains a challenge, and requires sharing of sequence and phenotypic data between laboratories. We reviewed all diabetes and hyperinsulinism-associated molecular testing done at the Seattle Children's Molecular Genetics Laboratory from 2009 to 2013. 331 probands were referred to us for molecular genetic sequencing for Neonatal Diabetes (NDM), Maturity-Onset Diabetes of the Young (MODY), or Congenital Hyperinsulinism (CHI) during this period. Reportable variants were identified in 115 (35%) patients with 91 variants in one of 6 genes: HNF1A, GCK, HNF4A, ABCC8, KCNJ11, or INS. In addition to identifying 23 novel variants, we identified unusual mechanisms of inheritance, including mosaic and digenic MODY presentations. Re-analysis of all reported variants using more recently available databases led to a change in variant interpretation from the original report in 30% of cases. These results represent a resource for molecular testing of monogenic forms of diabetes and hyperinsulinism, providing a mutation spectrum for these disorders in a large North American cohort. In addition, they highlight the importance of periodic review of molecular testing results.
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No. Sentence Comment
145 Nucleotide Protein Pheno dbSNP Times seen Interp. LOVD ClinVar Reference c.106CNT p.R36W MODY - 1 PATH PATH - [18] c.130GNA p.G44S MODY - 1 PATH VUS - [23] c.194CNT p.T65I NDM - 1 PATH - - [47] c.203GNA/c.892ANG p.G68D/p.M298V MODY rs373418736/- 1/1 VUS/PATH -/- -/- [23]/[21] c.241GNA p.G81S MODY - 1 PATH - - [23] c.349GNC p.G117R MODY - 1 VUS - - This report c.391TNC p.S131P MODY rs104894010 1 PATH - PATH [48] c.397TNC p.F133L MODY - 1 LP - - This report c.431TNC/c.460GNC p.L144P/p.V154L MODY -/- 1/1 VUS/PATH -/- -/- This report/this report c.533GNA p.G178E MODY - 1 PATH - - [49] c.544GNA p.V182M MODY - 1 PATH PATH - [50] c.556CNT p.R186* "Diabetes"* rs104894006 1 PATH PATH PATH [51] c.572GNA p.R191Q MODY - 1 PATH VUS - [52] c.601GNC p.A201P MODY 1 LP - - This report c.601GNT p.A201S MODY - 1 PATH - - [23] c.608TNC p.V203A MODY - 2 PATH - - [50] c.616ANC p.T206P MODY - 1 PATH - - [53] c.626CNT p.T209M MODY - 1 PATH - - [18] c.629TNC p.M210T MODY rs80356654 1 PATH PATH PATH [54] c.661GNA p.E221K MODY rs193922317 1 PATH - LP [55] c.667GNA p.G223S n.p. - 3 PATH - - [52] c.676GNA p.V226M MODY rs148311934 10 PATH PATH PATH [54] c.683CNT p.T228M MODY rs80356655 2 PATH - PATH [19] c.766GNA p.E256K MODY - 1 PATH PATH LP [56] c.781GNA p.G261R MODY rs104894008 3 PATH - PATH [19] c.787TNC p.S263P MODY rs193922331 3 PATH - LP [57] c.802GNA p.E268K MODY 1 PATH - - [23] c.871ANT p.K291* n.p. rs193922335 1 PATH - PATH ClinVar only c.883GNT p.G295C MODY - 1 LP - - This report c.891CNA p.Y297* n.p. - 1 PATH - - [58] c.917TNC p.L306P MODY rs193922337 1 LP - LP [23] c.951delC p.H317Qfs*36 MODY - 1 PATH - - This report c.971TNC p.L324P MODY rs193922341 1 PATH PATH LP [59] c.1007CNA p.S336* Diabetes - 1 PATH - - [23] c.1113CNA p.C371* n.p. - 1 PATH - - This report c.1142TNG p.M381R n.p. rs193922266 1 PATH - LP [24] c.1268TNC p.F423S "Fasting hyperglycemia"* - 1 LP - - This report c.1364TNA p.V455E MODY - 1 PATH PATH - [60] Variants identified in GCK are shown, along with phenotype, dbSNP number, clinical interpretation, and presence in two databases (LOVD and ClinVar).
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ABCC8 p.Glu268Lys 25555642:145:1353
status: NEW