ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1003G>T (p.Glu335Ter)

dbSNP: rs1396519956
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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 RCV001066775 SCV001231795 pathogenic Arrhythmogenic right ventricular dysplasia 9 2022-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 860471). This variant has not been reported in the literature in individuals affected with PKP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu335*) 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, 23911551).
Ambry Genetics RCV002402459 SCV002706384 pathogenic Cardiovascular phenotype 2020-07-29 criteria provided, single submitter clinical testing The p.E335* variant (also known as c.1003G>T), located in coding exon 3 of the PKP2 gene, results from a G to T substitution at nucleotide position 1003. This changes the amino acid from a glutamic acid to a stop codon within coding exon 3. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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