ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.15017G>A (p.Gly5006Asp)

dbSNP: rs1555805797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000655500 SCV000777431 pathogenic RYR1-related disorder 2023-03-23 criteria provided, single submitter clinical testing This variant disrupts the p.Gly5006 amino acid residue in RYR1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 27447704; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 544378). This missense change has been observed in individual(s) with clinical features of autosomal dominant RYR1-related conditions (Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 5006 of the RYR1 protein (p.Gly5006Asp).
Revvity Omics, Revvity RCV003133476 SCV003815012 uncertain significance not provided 2022-09-20 criteria provided, single submitter clinical testing

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