ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1379-2005A>G

gnomAD frequency: 0.00012  dbSNP: rs397516995
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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, Mass General Brigham Personalized Medicine RCV000038165 SCV000061831 likely benign not specified 2012-08-15 criteria provided, single submitter clinical testing Ser494Ser in exon 6 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. Ser494Ser in exon 6 of PKP2 (allele frequency = n/a)
Invitae RCV000640036 SCV000761624 likely benign Arrhythmogenic right ventricular dysplasia 9 2024-01-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001183719 SCV001349529 likely benign Cardiomyopathy 2020-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162331 SCV003866156 uncertain significance Cardiovascular phenotype 2023-01-05 criteria provided, single submitter clinical testing The c.1482A>G variant (also known as p.S494S), located in coding exon 6 of the PKP2 gene, results from an A to G substitution at nucleotide position 1482. This nucleotide substitution does not change the serine at codon 494. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. In addition, coding exon 6 is alternatively spliced, and the predominant isoform in human cardiac tissue, PKP2A, does not include this exon (Gandjbakhch E et al. Heart. 2011;97(10):844-9). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV003996368 SCV004846389 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-11-20 criteria provided, single submitter clinical testing

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