ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.8046_8064dup (p.Lys2689delinsLeuTer)

dbSNP: rs1970341946
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268520 SCV001447505 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004936 SCV004837676 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-11-02 criteria provided, single submitter clinical testing This variant inserts 19 nucleotides in exon 50 of the RYR1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with RYR1-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of RYR1 function due to truncation variants is not an established disease mechanism for autosomal dominant malignant hyperthermia, although it is associated with other phenotype(s) (ClinVar variation ID: 987227). Due to insufficient evidence, this variant is classified as a Variant of Uncertain Significance for autosomal dominant malignant hyperthermia.

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