ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3731G>A (p.Gly1244Glu) (rs267606723)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056386 SCV000071499 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Fulgent Genetics,Fulgent Genetics RCV000763160 SCV000893747 pathogenic Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral absence of the vas deferens 2018-10-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000056386 SCV000696985 pathogenic Cystic fibrosis 2016-03-31 criteria provided, single submitter clinical testing Variant summary: The CFTR c.3731G>A variant affects a conserved nucleotide, resulting in amino acid change from Gly to Glu. 5/5 in-silico tools predict a damaging outcome for this variant, and G1244E has been shown to drastically reduce chloride channel activity and HCO3- transport by in vitro studies (Anderson et al 1992, Choi et al 2001, Yu et al 2012, and Sosnay et al 2013). This variant was found in 2/121206 control chromosomes at a frequency of 0.0000165, which does not exceed maximal expected frequency of a pathogenic CFTR allele (0.0129603). In addition, the CFTR2 database and several independent publications consider the variant pathogenic/CF-causing. Taken together, this variant was classified as pathogenic.
PharmGKB RCV000211150 SCV000268279 drug response ivacaftor response - Efficacy 2018-03-23 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.

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