Submissions for variant NM_001035.3(RYR2):c.12083C>T (p.Ser4028Leu)

gnomAD frequency: 0.00001  dbSNP: rs779666612

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000316066	SCV000356451	uncertain significance	Catecholaminergic polymorphic ventricular tachycardia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000375356	SCV000356452	uncertain significance	Arrhythmogenic right ventricular cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV002522123	SCV000834073	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2023-08-10	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001509128	SCV001715671	uncertain significance	not provided	2021-02-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002348036	SCV002647552	uncertain significance	Cardiovascular phenotype	2019-02-28	criteria provided, single submitter	clinical testing	The p.S4028L variant (also known as c.12083C>T), located in coding exon 90 of the RYR2 gene, results from a C to T substitution at nucleotide position 12083. The serine at codon 4028 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.