ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.4454G>A (p.Ser1485Asn)

dbSNP: rs1317036540
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Department, Peking University First Hospital RCV001260943 SCV001245548 likely pathogenic Congenital multicore myopathy with external ophthalmoplegia 2020-04-11 criteria provided, single submitter provider interpretation
All of Us Research Program, National Institutes of Health RCV004000210 SCV004824295 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-06-08 criteria provided, single submitter clinical testing This missense variant replaces serine with asparagine at codon 1485 of the RYR1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with autosomal dominant malignant hyperthermia in the literature, although it is associated with other phenotype(s) (ClinVar Variation ID: 870620). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Due to insufficient evidence, this variant is classified as a Variant of Uncertain Significance for autosomal dominant malignant hyperthermia.

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