ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.3200G>A (p.Arg1067His)

gnomAD frequency: 0.00001  dbSNP: rs377381782
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690732 SCV000818432 uncertain significance RYR1-related disorder 2022-10-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1067 of the RYR1 protein (p.Arg1067His). This variant is present in population databases (rs377381782, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 569965). 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 not 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.
Revvity Omics, Revvity RCV003133527 SCV003810483 uncertain significance not provided 2019-08-08 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV002507201 SCV002817116 not provided Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 09-15-2021 by Lab or GTR ID 506526. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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