ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.5910G>C (p.Gln1970His)

dbSNP: rs1555780327
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501581 SCV000596901 likely pathogenic not provided 2016-07-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782410 SCV005394745 uncertain significance not specified 2024-09-24 criteria provided, single submitter clinical testing Variant summary: RYR1 c.5910G>C (p.Gln1970His) results in a non-conservative amino acid change located in the Ryanodine receptor, junctional solenoid domain (IPR048581) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251370 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.5910G>C in individuals affected with RYR1-related conditions and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 436625). Based on the evidence outlined above, the variant was classified as uncertain significance.

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