ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3680T>C (p.Leu1227Ser) (rs397508593)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589723 SCV000696982 uncertain significance not provided 2017-03-29 criteria provided, single submitter clinical testing Variant summary: The CFTR c.3680T>C (p.Leu1227Ser) variant located in the AAA+ ATPase domain (via InterPro) involves the alteration of a conserved nucleotide and 5/5 in silico tools predict a damaging outcome, although these predictions have yet to be functionally assessed. The variant of interest was found in 1/121222 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). Multiple publications have cited the variant in affected individuals, predominantly in individuals with CBAVD. Multiple clinical diagnostic laboratories/reputable databases have cited the variant but with limited information and/or classification. Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance - Possibly Pathogenic."
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577748 SCV000679445 not provided Cystic fibrosis no assertion provided literature only

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