ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4077_4080delinsAA (p.Val1360fs) (rs397508668)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056390 SCV000071485 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000056390 SCV000697005 pathogenic Cystic fibrosis 2020-08-31 criteria provided, single submitter clinical testing Variant summary: CFTR c.4077_4080delinsAA (p.Val1360ThrfsX3) 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. The variant was absent in 251266 control chromosomes. c.4077_4080delinsAA has been reported in the literature in multiple individuals affected with Cystic Fibrosis (examples- Sosnay_2013). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One expert panel has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and cited the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics RCV001004515 SCV001163560 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
Counsyl RCV000056390 SCV001132352 likely pathogenic Cystic fibrosis 2014-01-02 no assertion criteria provided clinical testing

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