ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.5837C>T (p.Thr1946Met)

gnomAD frequency: 0.00001  dbSNP: rs942287498
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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 RCV000818591 SCV000959213 uncertain significance Epileptic encephalopathy 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 1946 of the RYR3 protein (p.Thr1946Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (no rsID available, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with RYR3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV005012369 SCV005638019 uncertain significance Congenital myopathy 20 2024-02-14 criteria provided, single submitter clinical testing

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