ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1783A>G (p.Met595Val) (rs750140050)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507443 SCV000603004 uncertain significance not specified 2016-11-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000507443 SCV000919187 uncertain significance not specified 2018-05-23 criteria provided, single submitter clinical testing Variant summary: CFTR c.1783A>G (p.Met595Val) results in a conservative amino acid change located in the C-terminal ATPase domain of the encoded protein sequence (InterPro). Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8.8e-06 in 227450 control chromosomes (gnomAD). This frequency is not higher than expected for a pathogenic variant in CFTR causing Chronic Pancreatitis Risk (8.8e-06 vs 0.0063), allowing no conclusion about variant significance. c.1783A>G has been reported once in the literature to be found in a healthy control (Poulou 2012), but this report does not allow unequivocal conclusions about association of the variant with Chronic Pancreatitis Risk. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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