ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys) (rs150154235)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498031 SCV000589515 uncertain significance not provided 2017-06-12 criteria provided, single submitter clinical testing The F2132C variant in the PKD1 gene has been reported in an individual with autosomal dominant polycystic kidney disease (O'Brien et al., 2012). The F2132C variant is observed in 4/1270 (0.3%) alleles from individuals of East Asian background in the ExAC dataset (Lek et al., 2016). The F2132C variant is a non-conservative amino acid substitution, which occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret F2132C as a variant of uncertain significance

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