ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1745C>T (p.Thr582Ile) (rs397508293)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000576955 SCV000792543 uncertain significance Cystic fibrosis 2017-06-29 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781252 SCV000919160 uncertain significance not specified 2018-10-30 criteria provided, single submitter clinical testing Variant summary: CFTR c.1745C>T (p.Thr582Ile) results in a non-conservative amino acid change located in the ABC transporter-like and AAA+ ATPase domains 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 245076 control chromosomes (gnomAD). The variant, c.1745C>T, has been reported in the literature in individuals affected with Cystic Fibrosis (des Georges_2004, Sobczynska-Tomaszewska_2013). These data indicate that the variant may 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 uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000576955 SCV000678961 not provided Cystic fibrosis no assertion provided literature only

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