ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.8071T>C (p.Tyr2691His)

dbSNP: rs1221624769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001985293 SCV002225294 uncertain significance RYR1-related disorder 2021-04-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of malignant hyperthermia (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with histidine at codon 2691 of the RYR1 protein (p.Tyr2691His). The tyrosine residue is moderately conserved and there is a moderate physicochemical difference between tyrosine and histidine.
Revvity Omics, Revvity RCV003490968 SCV004236640 uncertain significance not provided 2023-03-27 criteria provided, single submitter clinical testing

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