ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.2489C>A (p.Ala830Asp) (rs1057518582)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413192 SCV000492359 uncertain significance not specified 2016-12-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PKP2 gene. The A830D variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A830D 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. However, 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.
Ambry Genetics RCV000619424 SCV000738203 uncertain significance Cardiovascular phenotype 2017-10-05 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Insufficient evidence

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