ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.6479G>T (p.Gly2160Val)

dbSNP: rs1969716005
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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 RCV001232424 SCV001404982 uncertain significance RYR1-related disorder 2022-09-27 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2160 of the RYR1 protein (p.Gly2160Val). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on RYR1 protein function. ClinVar contains an entry for this variant (Variation ID: 959133).
Ambry Genetics RCV003380913 SCV004090350 uncertain significance Inborn genetic diseases 2023-09-14 criteria provided, single submitter clinical testing The c.6479G>T (p.G2160V) alteration is located in exon 39 (coding exon 39) of the RYR1 gene. This alteration results from a G to T substitution at nucleotide position 6479, causing the glycine (G) at amino acid position 2160 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004822334 SCV005443221 uncertain significance not provided 2024-06-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 12668474, 33767344)

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