ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7121C>T (p.Ser2374Leu)

gnomAD frequency: 0.00001  dbSNP: rs1131692006
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493566 SCV000583349 uncertain significance not provided 2018-07-02 criteria provided, single submitter clinical testing The S2374L variant in the RYR1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S2374L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Serine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on currently available evidence, we interpret S2374L as a variant of uncertain significance.

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