ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.3800C>G (p.Pro1267Arg) (rs150495044)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000721509 SCV000852587 uncertain significance not provided 2015-09-01 criteria provided, single submitter clinical testing
Invitae RCV000812631 SCV000952951 likely pathogenic RYR1-Related Disorders 2019-12-06 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 1267 of the RYR1 protein (p.Pro1267Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs150495044, ExAC 0.01%). This variant has been observed in combination with another RYR1 variant in individuals affected with autosomal recessive RYR1-related conditions (PMID: 23919265, 27066551, 26841830, Invitae). ClinVar contains an entry for this variant (Variation ID: 161370). 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: "Probably 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 RCV000148817 SCV000190556 uncertain significance Multiminicore Disease 2014-06-01 no assertion criteria provided research

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