ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1672G>A (p.Val558Ile) (rs376102257)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245734 SCV000319107 uncertain significance Cardiovascular phenotype 2013-11-09 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
GeneDx RCV000521548 SCV000620142 uncertain significance not provided 2017-08-16 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PKP2 gene. The V558I variant has not been published as pathogenic or been reported as benign to our knowledge. This 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). However, the V558I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species, and in silico analysis suggests that this variant likely does not alter the protein structure/function.
Color RCV001183826 SCV001349668 uncertain significance Cardiomyopathy 2019-01-29 criteria provided, single submitter clinical testing

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