ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.10257C>T (p.Phe3419=)

gnomAD frequency: 0.00001  dbSNP: rs748715725
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420098 SCV000529072 likely benign not specified 2016-06-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002522353 SCV000760713 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-12-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191142 SCV001358846 likely benign Cardiomyopathy 2019-08-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003168673 SCV003858420 uncertain significance Cardiovascular phenotype 2023-02-13 criteria provided, single submitter clinical testing The c.10257C>T variant (also known as p.F3419F), located in coding exon 71 of the RYR2 gene, results from a C to T substitution at nucleotide position 10257. This nucleotide substitution does not change the phenylalanine at codon 3419. This nucleotide position is poorly 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 RCV004000465 SCV004817818 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-01-11 criteria provided, single submitter clinical testing

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