ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.775G>T (p.Glu259Ter)

dbSNP: rs1425855043
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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 RCV000537958 SCV000638906 pathogenic Arrhythmogenic right ventricular dysplasia 9 2024-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu259*) in the PKP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKP2 are known to be pathogenic (PMID: 15489853, 17041889, 23911551). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with arrhythmogenic right ventricular cardiomyopathy (PMID: 21606390). ClinVar contains an entry for this variant (Variation ID: 464432). For these reasons, this variant has been classified as Pathogenic.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769393 SCV000900785 pathogenic Cardiomyopathy 2020-01-13 criteria provided, single submitter clinical testing

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