ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2810dup (p.Val938fs) (rs193922510)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000029504 SCV000245955 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029504 SCV000052155 likely pathogenic Cystic fibrosis 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759760 SCV000889298 pathogenic not provided 2018-01-10 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000029504 SCV000992334 pathogenic Cystic fibrosis 2019-03-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001329 SCV001158516 pathogenic not specified 2019-05-28 criteria provided, single submitter clinical testing The CFTR c.2810dupT; p.Val938fs variant (rs193922510), also known as 2942insT, is reported in multiple individuals affected with cystic fibrosis (see links to CFTR2 database, Cystic Fibrosis Mutation Database). This variant is reported in ClinVar (Variation ID: 35849), and is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by inserting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Link to CFTR2 database: Link to Cystic Fibrosis Mutation Database:
Baylor Genetics RCV001004488 SCV001163533 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
CFTR-France RCV000029504 SCV001169514 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Invitae RCV000029504 SCV001591321 pathogenic Cystic fibrosis 2020-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val938Glyfs*37) in the CFTR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with cystic fibrosis (PMID: 23974870). ClinVar contains an entry for this variant (Variation ID: 35849). Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). For these reasons, this variant has been classified as Pathogenic.

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