ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14709G>C (p.Glu4903Asp)

dbSNP: rs557624321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001063105 SCV001227939 uncertain significance RYR1-related disorder 2019-02-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 4903 of the RYR1 protein (p.Glu4903Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs557624321, ExAC 0.01%). This variant has not been reported in the literature in individuals with RYR1-related conditions. 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: "Not Available"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV003442188 SCV004168367 uncertain significance not provided 2023-04-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 20681998, 33767344)

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