ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His) (rs200168879)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710170 SCV000614552 uncertain significance not provided 2018-05-11 criteria provided, single submitter clinical testing
GeneDx RCV000710170 SCV000572964 uncertain significance not provided 2017-02-13 criteria provided, single submitter clinical testing The R2888H variant in the PKD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R2888H variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R2888H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In addition, this substitution occurs at a position that is not conserved across species, and in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret R2888H as a variant of uncertain significance.

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