ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.10927A>C (p.Asn3643His)

gnomAD frequency: 0.00003  dbSNP: rs924687841
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001351923 SCV001546439 uncertain significance RYR1-related disorder 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 3643 of the RYR1 protein (p.Asn3643His). This variant is present in population databases (no rsID available, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1047241). 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 not expected to disrupt RYR1 protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002493812 SCV002780002 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-07-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005246 SCV004827293 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-11-09 criteria provided, single submitter clinical testing

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