ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13303A>G (p.Thr4435Ala)

gnomAD frequency: 0.00020  dbSNP: rs374019555
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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 RCV002533709 SCV000833406 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-11-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001181824 SCV001347060 likely benign Cardiomyopathy 2020-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386264 SCV002692528 uncertain significance Cardiovascular phenotype 2023-05-15 criteria provided, single submitter clinical testing The p.T4435A variant (also known as c.13303A>G), located in coding exon 91 of the RYR2 gene, results from an A to G substitution at nucleotide position 13303. The threonine at codon 4435 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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