ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.377G>A (p.Gly126Asp) (rs397508609)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000577044 SCV000924245 pathogenic Cystic fibrosis 2019-03-11 reviewed by expert panel research
Baylor Genetics RCV001004429 SCV001163474 likely pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
Invitae RCV000577044 SCV001576500 likely pathogenic Cystic fibrosis 2020-06-23 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 126 of the CFTR protein (p.Gly126Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals with cystic fibrosis in the Clinical and Functional TRanslation of CFTR database (PMID: 23974870). ClinVar contains an entry for this variant (Variation ID: 53812). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577044 SCV000679073 not provided Cystic fibrosis no assertion provided literature only
Natera, Inc. RCV000577044 SCV001454013 pathogenic Cystic fibrosis 2020-09-16 no assertion criteria provided clinical testing

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