ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1163C>T (p.Ser388Leu)

gnomAD frequency: 0.00001  dbSNP: rs777892571
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000702184 SCV000831027 uncertain significance RYR1-related disorder 2024-10-10 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 388 of the RYR1 protein (p.Ser388Leu). This variant is present in population databases (rs777892571, gnomAD 0.005%). This missense change has been observed in individual(s) with exercise intolerance and mild myopathy (PMID: 31517061). ClinVar contains an entry for this variant (Variation ID: 579011). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt RYR1 protein function with a negative predictive value of 95%. 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.

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