ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5298C>T (p.Pro1766=)

gnomAD frequency: 0.00001  dbSNP: rs570743152
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774120 SCV000907820 likely benign Cardiomyopathy 2018-09-28 criteria provided, single submitter clinical testing
Invitae RCV002534117 SCV001656505 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-01-14 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV001823744 SCV002073472 likely benign not specified 2022-01-14 criteria provided, single submitter clinical testing This synonymous variant has an entry in ClinVar (629414) NM_001035.3 (RYR2): c.5298C>T (p.Pro1766=) and has not occurred in population databases. This position is not conserved. In silico splicing algorithm was unavailable, however it is not predicted to impact splicing due to its distance from the splice site. No functional studies were performed to confirm this prediction. The variant has not occurred in literature associated with disease. Considering the above evidence, this variant has been classified as Likely Benign.

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