ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.279T>A (p.Val93=)

dbSNP: rs1037732490
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003104126 SCV001684105 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2020-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002439147 SCV002749739 uncertain significance Cardiovascular phenotype 2021-05-19 criteria provided, single submitter clinical testing The c.279T>A variant (also known as p.V93V), located in coding exon 4 of the RYR2 gene, results from a T to A substitution at nucleotide position 279. This nucleotide substitution does not change the amino acid at codon 93. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. 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 RCV004804196 SCV005426568 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-08-13 criteria provided, single submitter clinical testing

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