ABCMdb

ABCC7 p.Gln493His

ClinVar:	c.1478A>C , p.Gln493Pro ? , not provided c.1478A>G , p.Gln493Arg ? , not provided c.1477C>T , p.Gln493* D , Pathogenic
CF databases:	c.1477C>T , p.Gln493* D , CF-causing c.1478A>C , p.Gln493Pro (CFTR1) D , c.1478A>G , p.Gln493Arg (CFTR1) ? , This mutation was identified by DGGE and direct sequencing which was found in a Bulgarian CF chromosome.
Predicted by SNAP2:	A: D (85%), C: D (85%), D: D (91%), E: D (85%), F: D (91%), G: D (91%), H: D (85%), I: D (91%), K: D (91%), L: D (91%), M: D (85%), N: D (85%), P: D (95%), R: D (91%), S: D (85%), T: D (85%), V: D (85%), W: D (91%), Y: D (91%),
Predicted by PROVEAN:	A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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Publications
[hide] Novel CFTR variants identified during the first 3 ... J Mol Diagn. 2013 Sep;15(5):710-22. doi: 10.1016/j.jmoldx.2013.05.006. Epub 2013 Jun 28. Prach L, Koepke R, Kharrazi M, Keiles S, Salinas DB, Reyes MC, Pian M, Opsimos H, Otsuka KN, Hardy KA, Milla CE, Zirbes JM, Chipps B, O'Bra S, Saeed MM, Sudhakar R, Lehto S, Nielson D, Shay GF, Seastrand M, Jhawar S, Nickerson B, Landon C, Thompson A, Nussbaum E, Chin T, Wojtczak H
Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.
J Mol Diagn. 2013 Sep;15(5):710-22. doi: 10.1016/j.jmoldx.2013.05.006. Epub 2013 Jun 28., [PMID:23810505]

Abstract [show]
California uses a unique method to screen newborns for cystic fibrosis (CF) that includes gene scanning and DNA sequencing after only one California-40 cystic fibrosis transmembrane conductance regulator (CFTR) panel mutation has been identified in hypertrypsinogenemic specimens. Newborns found by sequencing to have one or more additional mutations or variants (including novel variants) in the CFTR gene are systematically followed, allowing for prospective assessment of the pathogenic potential of these variants. During the first 3 years of screening, 55 novel variants were identified. Six of these novel variants were discovered in five screen-negative participants and three were identified in multiple unrelated participants. Ten novel variants (c.2554_2555insT, p.F1107L, c.-152G>C, p.L323P, p.L32M, c.2883_2886dupGTCA, c.2349_2350insT, p.K114del, c.-602A>T, and c.2822delT) were associated with a CF phenotype (42% of participants were diagnosed at 4 to 25 months of age), whereas 26 were associated with CFTR-related metabolic syndrome to date. Associations with the remaining novel variants were confounded by the presence of other diseases or other mutations in cis or by inadequate follow-up. These findings have implications for how CF newborn screening and follow-up is conducted and will help guide which genotypes should, and which should not, be considered screen positive for CF in California and elsewhere.

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Sentences [show]
No. Sentence Comment
74 of parents receiving CFTR mutation testing Diagnosis/ status 49 W 80.6 p.F508del p.S13C 7T/9T 0 ND{ 50 H 90.3 c.274-1G>A p.T629A 7T/9T 0 ND{ 51 W, B 100.6 p.F508del p.P355L (c.1064C>T) 7T/9T 0 ND{ 52 H 79.1 p.F508del p.Q493H (c.1479G>C) 7T/9T 0 ND{ 53 W, B 64.8 p.F508del p.V1022M 7T/9T 0 ND{ 54 W 74.7 p.F508del c.-887C>T c.4243-5C>T 7T/9T 0 NDk 55 O 136.6 p.F508del p.P718R 7T/9T 0 ND{ Study participants with negative NBS results 56 H 276.7 c.2822delT c.2822delT 7T/7T 0 CF 57 H 179.2 c.2822delT c.2822delT 7T/7T 0 CF 58 W 15.6 p.S1235R c.-288G>C 7T/9T 0 CF 59 H 35.1 c.164 &#fe; 4T>A* p.G1173S* Not done 1 Carrier 60 O 20.2 c.4136 &#fe; 12A>G* p.M837Ty Not done 2 NDk *Confirmed by parental CFTR mutation testing to be on chromosome 1. y Confirmed by parental CFTR mutation testing to be on chromosome 2. z 5T variant associated with (TG)11. x 5T variant associated with (TG)12. Login to comment
191 47 to 55 and 60) with the following novel variants owing to inadequate follow-up: p.S13C, p.P355L, p.Q493H, p.T629A, p.P718R, p.V1022M, p.R1128G, and c.3963 &#fe; 6G>T. Login to comment