ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.5120G>A (p.Arg1707His) (rs371566475)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000721580 SCV000345790 uncertain significance not provided 2016-09-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000721580 SCV000852672 uncertain significance not provided 2015-05-26 criteria provided, single submitter clinical testing
Invitae RCV000812144 SCV000952448 likely pathogenic RYR1-Related Disorders 2018-11-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1707 of the RYR1 protein (p.Arg1707His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs371566475, ExAC 0.02%). This variant has been observed on the opposite chromosome (in trans) from other pathogenic variants in individuals affected with autosomal recessive RYR1-related myopathy (PMID: 23919265, Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 161373). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
CSER _CC_NCGL, University of Washington RCV000148820 SCV000190559 uncertain significance Myopathy, RYR1-associated 2014-06-01 no assertion criteria provided research

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