ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1307C>G (p.Pro436Arg)

dbSNP: rs771433606
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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 RCV001907440 SCV002122419 uncertain significance RYR1-related disorder 2021-09-18 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 436 of the RYR1 protein (p.Pro436Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs771433606, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. 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 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.

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