ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.11198G>A (p.Cys3733Tyr)

gnomAD frequency: 0.00002  dbSNP: rs777478644
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000721222 SCV000852237 uncertain significance not provided 2013-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000806935 SCV000946958 uncertain significance RYR1-related disorder 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 3733 of the RYR1 protein (p.Cys3733Tyr). This variant is present in population databases (rs777478644, gnomAD 0.003%). This missense change has been observed in individual(s) with RYR1-related conditions (PMID: 33333461). ClinVar contains an entry for this variant (Variation ID: 590378). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RYR1 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 RCV002493285 SCV002788348 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-10-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000721222 SCV003812572 uncertain significance not provided 2021-05-07 criteria provided, single submitter clinical testing

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