ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.584C>T (p.Ala195Val)

dbSNP: rs1041783952
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001184276 SCV001350223 uncertain significance Cardiomyopathy 2019-10-24 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 195 of the PKP2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV001876131 SCV002142362 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2022-06-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 923510). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with PKP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 195 of the PKP2 protein (p.Ala195Val).

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