ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.112G>T (p.Ala38Ser) (rs377558801)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544625 SCV000659763 uncertain significance RYR1-Related Disorders 2016-11-04 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 38 of the RYR1 protein (p.Ala38Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs377558801, ExAC 0.002%) but has not been reported in the literature in individuals with a RYR1-related disease. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This missense change is located in an N-terminal region of the  RYR1 protein where many other previously reported pathogenic mutations have been found (PMID: 16084090). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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