ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.3523G>A (p.Glu1175Lys) (rs769744438)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655600 SCV000777531 uncertain significance RYR1-Related Disorders 2018-09-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1175 of the RYR1 protein (p.Glu1175Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs769744438, ExAC 0.01%). This variant has been reported in several individuals affected with congenital myopathy (PMID: 25635128, 25214167, Invitae). ClinVar contains an entry for this variant (Variation ID: 544453). 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"). 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.
PreventionGenetics RCV000721499 SCV000852576 uncertain significance not provided 2016-05-24 criteria provided, single submitter clinical testing

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