ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.2524G>A (p.Val842Ile) (rs368633311)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183702 SCV000236173 likely benign not specified 2015-09-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000622198 SCV000738110 uncertain significance Cardiovascular phenotype 2019-09-03 criteria provided, single submitter clinical testing Insufficient evidence;Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (benign)
Invitae RCV000640025 SCV000761612 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-12-03 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 842 of the PKP2 protein (p.Val842Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs368633311, ExAC 0.03%). This variant has been observed in an individual with peripartum cardiomyopathy (PMID: 24558114). ClinVar contains an entry for this variant (Variation ID: 201959). 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Color RCV001181143 SCV001346236 uncertain significance Cardiomyopathy 2020-04-20 criteria provided, single submitter clinical testing
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000786191 SCV000924899 uncertain significance not provided 2015-11-13 no assertion criteria provided provider interpretation

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