ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.5962G>A (p.Ala1988Thr)

gnomAD frequency: 0.00002  dbSNP: rs763360938
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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 RCV001306834 SCV001496216 uncertain significance RYR1-related disorder 2022-06-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1988 of the RYR1 protein (p.Ala1988Thr). This variant is present in population databases (rs763360938, 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: 1009361). 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 RCV003130252 SCV003814422 uncertain significance not provided 2020-09-15 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001535587 SCV001749585 not provided Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Myopathy, RYR1-associated no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 10-28-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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