ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14651_14652insTCC (p.Met4884delinsIlePro)

dbSNP: rs1663402590
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002543597 SCV001502907 likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1 2021-04-08 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with clinical features of RYR2-related disease (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 1013805). This variant is not present in population databases (ExAC no frequency). This variant, c.14651_14652insTCC, is a complex sequence change that results in the deletion of 1 amino acid and insertion of 2 amino acid(s) in the RYR2 protein (p.Met4884delinsIlePro).

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