ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.5999C>T (p.Ser2000Phe)

gnomAD frequency: 0.00001  dbSNP: rs750324313
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197634 SCV001368413 uncertain significance Congenital myopathy with fiber type disproportion 2019-02-28 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV002559261 SCV003499198 uncertain significance RYR1-related disorder 2022-06-24 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 2000 of the RYR1 protein (p.Ser2000Phe). This variant is present in population databases (rs750324313, gnomAD 0.004%). 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: 931243). 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.
Revvity Omics, Revvity RCV003132259 SCV003812391 uncertain significance not provided 2019-12-09 criteria provided, single submitter clinical testing

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