ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.4256A>G (p.Asn1419Ser)

dbSNP: rs772135005
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558553 SCV000659936 uncertain significance RYR1-related disorder 2016-10-06 criteria provided, single submitter clinical testing 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. 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: "Benign"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RYR1-related disease. This sequence change replaces asparagine with serine at codon 1419 of the RYR1 protein (p.Asn1419Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine.

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