ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.714G>A (p.Pro238=) (rs727503372)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151660 SCV000199933 likely benign not specified 2014-09-11 criteria provided, single submitter clinical testing Pro238Pro in exon 3 of PKP2: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence.
GeneDx RCV000151660 SCV000730786 likely benign not specified 2018-01-10 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 RCV000620227 SCV000736695 likely benign Cardiovascular phenotype 2016-12-29 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color RCV001185782 SCV001352073 likely benign Cardiomyopathy 2019-12-09 criteria provided, single submitter clinical testing
Invitae RCV001242899 SCV001416018 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-12-04 criteria provided, single submitter clinical testing This sequence change affects codon 238 of the PKP2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PKP2 protein. This variant is present in population databases (rs727503372, ExAC 0.02%). This variant has not been reported in the literature in individuals with PKP2-related disease. ClinVar contains an entry for this variant (Variation ID: 164966). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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