ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1058T>C (p.Leu353Pro)

dbSNP: rs1956875248
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052180 SCV001216377 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2023-08-10 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. ClinVar contains an entry for this variant (Variation ID: 848426). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 353 of the PKP2 protein (p.Leu353Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PKP2-related conditions.
All of Us Research Program, National Institutes of Health RCV004000051 SCV004830680 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2024-08-06 criteria provided, single submitter clinical testing This missense variant replaces leucine with proline at codon 353 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). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with PKP2-related 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.

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