ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.476T>C (p.Leu159Ser) (rs397508727)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000496886 SCV000588144 likely pathogenic Congenital bilateral aplasia of vas deferens from CFTR mutation 2017-02-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285699 SCV001472175 likely pathogenic none provided 2019-09-06 criteria provided, single submitter clinical testing The CFTR c.476T>C; p.Leu159Ser variant (rs397508727) is reported in the literature in the compound heterozygous state with a second pathogenic variant in individuals affected with pancreatic sufficient cystic fibrosis (Alonso 2007, Goubau 2009). This variant is reported in ClinVar (Variation ID: 53962), and is only observed on three alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The leucine at codon 159 is highly conserved, and computational analyses (SIFT: tolerated, PolyPhen-2: probably damaging) predict conflicting effects of this variant on protein structure/function. Based on available information, this variant is considered to be likely pathogenic. References: Alonso MJ et al. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry. Ann Hum Genet. 2007 Mar;71(Pt 2):194-201. Goubau C et al. Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis. Thorax. 2009 Aug;64(8):683-91.

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