ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.10735G>A (p.Val3579Ile)

gnomAD frequency: 0.00001  dbSNP: rs764650501
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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 RCV000702719 SCV000831585 uncertain significance RYR1-related disorder 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 3579 of the RYR1 protein (p.Val3579Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs764650501, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV005027873 SCV005647481 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 2024-01-18 criteria provided, single submitter clinical testing

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