ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1712T>C (p.Leu571Ser) (rs397508280)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000577164 SCV001360491 likely pathogenic Cystic fibrosis 2019-01-21 criteria provided, single submitter clinical testing Variant summary: CFTR c.1712T>C (p.Leu571Ser) results in a non-conservative amino acid change located in the AAA+ ATPase domain (IPR003593) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 245736 control chromosomes (gnomAD and publication). c.1712T>C has been reported in the literature in a homozygous and at least two compound heterozygote individuals affected with Cystic Fibrosis (Onay 1998, Varon 1995, Lucarelli 2015, Lucarelli 2017). These data indicate that the variant may be associated with disease. In addition, variants located nearby this variant, Y569H, Y569D, Y569C, D572N and P574H, have been reported in HGMD associated with cystic fibrosis, thus suggesting this region is important for CFTR protein function. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577164 SCV000679122 not provided Cystic fibrosis no assertion provided literature only

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