ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.3495C>T (p.Gly1165=)

gnomAD frequency: 0.00007  dbSNP: rs772616442
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000721498 SCV000852574 uncertain significance not provided 2018-07-18 criteria provided, single submitter clinical testing
Invitae RCV001037069 SCV001200466 uncertain significance RYR1-related disorder 2023-10-15 criteria provided, single submitter clinical testing This sequence change affects codon 1165 of the RYR1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RYR1 protein. This variant is present in population databases (rs772616442, gnomAD 0.01%). This variant has been observed in individual(s) with RYR1-related disease (PMID: 30155738). ClinVar contains an entry for this variant (Variation ID: 590516). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002477666 SCV002783295 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-09-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003514402 SCV004358057 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-02-24 criteria provided, single submitter clinical testing This variant is located in the RYR1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with unspecified RYR1-related disorder (PMID: 30155738) and has not been reported in individuals with malignant hyperthermia susceptibility in the literature. This variant has been identified in 16/282864 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV003514402 SCV004820812 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-09-04 criteria provided, single submitter clinical testing This variant is located in the RYR1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with unspecified RYR1-related disorder (PMID: 30155738) and has not been reported in individuals with malignant hyperthermia susceptibility in the literature. This variant has been identified in 16/282864 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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