ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe)

dbSNP: rs193922836
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV003996095 SCV004834320 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-12-13 criteria provided, single submitter clinical testing This missense variant replaces serine with phenylalanine at codon 3448 of the RYR1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.85, 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: 12991). 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.
OMIM RCV000013863 SCV000034110 pathogenic Congenital multicore myopathy with external ophthalmoplegia 2005-12-27 no assertion criteria provided literature only
Leiden Muscular Dystrophy (RYR1) RCV000119408 SCV000154315 not provided not provided no assertion provided not provided

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