ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.850dup (p.Met284fs) (rs786204693)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000169503 SCV000924251 pathogenic Cystic fibrosis 2017-12-08 reviewed by expert panel research
Counsyl RCV000169503 SCV000220966 likely pathogenic Cystic fibrosis 2014-12-18 criteria provided, single submitter literature only
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000790771 SCV000340673 pathogenic not provided 2016-03-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000169503 SCV001362620 pathogenic Cystic fibrosis 2019-02-21 criteria provided, single submitter clinical testing Variant summary: The variant, CFTR c.850dupA (p.Met284AsnfsX3, also known as legacy name 977insA) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. c.861_865delCTTAA (p.Met284fsX3), c.948delT (p.Phe316fsX12)). The variant was absent in 244174 control chromosomes (gnomAD) and has been reported in the literature in individuals affected with Cystic Fibrosis (Cheadle_1993, Schwarz_1995). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Natera, Inc. RCV001027912 SCV001190635 pathogenic CFTR-related disorders 2019-05-20 no assertion criteria provided clinical testing

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