ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12146C>T (p.Ser4049Phe) (rs757666977)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493761 SCV000583215 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing The S4049F variant in the PKD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S4049F variant is observed in 5/61612 (0.008%) alleles from individuals of non-Finnish European background, in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S4049F variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Serine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret S4049F as a variant of uncertain significance.

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