ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9511A>C (p.Ser3171Arg)

gnomAD frequency: 0.00001  dbSNP: rs370851939
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001547385 SCV001767078 uncertain significance not provided 2021-06-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 12668474, 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV002032569 SCV002131507 uncertain significance RYR1-related disorder 2023-10-29 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 3171 of the RYR1 protein (p.Ser3171Arg). This variant is present in population databases (rs370851939, gnomAD 0.002%). 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: 1187815). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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 RCV002501880 SCV002791946 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 2021-09-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001547385 SCV003814454 uncertain significance not provided 2022-12-16 criteria provided, single submitter clinical testing

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