ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.872C>T (p.Ala291Val)

gnomAD frequency: 0.00004  dbSNP: rs200572262
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056465 SCV001220908 uncertain significance RYR1-related disorder 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 291 of the RYR1 protein (p.Ala291Val). This variant is present in population databases (rs200572262, gnomAD 0.02%). 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: 851952). 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 RCV002482015 SCV002782753 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 2021-10-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV001056465 SCV004711936 uncertain significance RYR1-related disorder 2024-01-12 criteria provided, single submitter clinical testing The RYR1 c.872C>T variant is predicted to result in the amino acid substitution p.Ala291Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.038% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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