ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.559G>A (p.Glu187Lys)

dbSNP: rs1014768250
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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 RCV000692220 SCV000820032 uncertain significance RYR1-related disorder 2018-02-20 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with RYR1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 187 of the RYR1 protein (p.Glu187Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This sequence change is located in a region of the RYR1 protein where a significant number of previously reported RYR1 missense mutations are found (PMID: 16084090).

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