ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2161G>A (p.Ala721Thr) (rs1085307516)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489662 SCV000576630 uncertain significance not provided 2017-04-25 criteria provided, single submitter clinical testing The A721T variant in the PKD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Adequate data is not available in large population cohorts to assess the frequency of this variant in publicly available databases; however, this variant has been detected in 2/66836 (0.003%) of alleles in presumably healthy individuals tested at GeneDx. The A721T 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 Alanine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A721T as a variant of uncertain significance.

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