ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.15017G>A (p.Gly5006Asp) (rs1555805797)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655500 SCV000777431 uncertain significance RYR1-Related Disorders 2018-01-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 5006 of the RYR1 protein (p.Gly5006Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with myopathy in a single family (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). A different missense variant in the same codon (p.Gly5006Ser) has been reported in an individual affected with congenital myopathy, however the clinical significance of this variant is unknown at this time (PMID: 27447704). 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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