ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.13408G>A (p.Gly4470Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003388530 SCV004100214 uncertain significance not specified 2023-09-27 criteria provided, single submitter clinical testing Variant summary: RYR1 c.13408G>A (p.Gly4470Ser) results in a non-conservative amino acid change located in the Ryanodine Receptor TM 4-6 (IPR009460) of the encoded protein sequence. Four of four in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 31332 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.13408G>A in individuals affected with Malignant Hyperthermia Susceptibility and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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