ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.4327G>A (p.Glu1443Lys)

gnomAD frequency: 0.00001  dbSNP: rs747311834
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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 RCV001045161 SCV001208996 uncertain significance RYR1-related disorder 2022-08-30 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RYR1 protein function. ClinVar contains an entry for this variant (Variation ID: 842701). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. This variant is present in population databases (rs747311834, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1443 of the RYR1 protein (p.Glu1443Lys).
All of Us Research Program, National Institutes of Health RCV004004775 SCV004817122 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-03-04 criteria provided, single submitter clinical testing

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