ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1379-2111C>T

gnomAD frequency: 0.00001  dbSNP: rs1172703594
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001178303 SCV001342698 likely benign Cardiomyopathy 2020-01-29 criteria provided, single submitter clinical testing
Invitae RCV002558876 SCV003514992 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2022-09-13 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the PKP2 gene. It does not directly change the encoded amino acid sequence of the PKP2 protein. It affects a nucleotide within the consensus splice site. 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 919882). This variant has not been reported in the literature in individuals affected with PKP2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database.
Ambry Genetics RCV003380856 SCV004097974 likely benign Cardiovascular phenotype 2023-08-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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