ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.6478G>A (p.Gly2160Ser) (rs143398211)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000148821 SCV000190560 uncertain significance Malignant hyperthermia and exertional rhabdomyolosis 2014-06-01 no assertion criteria provided research
GeneDx RCV000438220 SCV000521245 uncertain significance not provided 2018-11-30 criteria provided, single submitter clinical testing The G2160S variant in the RYR1 gene has been previously reported in the heterozygous state in an African American male patient with exertional rhabdomyolysis and malignant hyperthermia susceptibility who was also heterozygous for a second missense variant in the RYR1 gene, however, familial segregation information was not provided (Sambuughin et al., 2009). The G2160S variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G2160S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved across species. However, in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G2160S as a variant of uncertain significance.
GenomeConnect, ClinGen RCV000509236 SCV000607034 not provided RYR1-Related Disorder no assertion provided phenotyping only 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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