ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12503_12504delinsTT (p.Ser4168Ile)

dbSNP: rs1973128519
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245145 SCV001418415 uncertain significance RYR1-Related Disorders 2021-08-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003514492 SCV004358207 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-07-10 criteria provided, single submitter clinical testing This missense variant replaces serine with isoleucine at codon 4168 of the RYR1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RYR1-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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