ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.6352C>T (p.Arg2118Trp)

gnomAD frequency: 0.00003  dbSNP: rs148660840
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996881 SCV001151852 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Invitae RCV001054011 SCV001218303 uncertain significance RYR1-Related Disorders 2022-03-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 2118 of the RYR1 protein (p.Arg2118Trp). This variant is present in population databases (rs148660840, gnomAD 0.01%). This missense change has been observed in individual(s) with centronuclear myopathy (PMID: 25957634). ClinVar contains an entry for this variant (Variation ID: 808548). 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.
Baylor Genetics RCV001332540 SCV001524898 uncertain significance Central core myopathy 2019-08-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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