ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9640A>G (p.Asn3214Asp)

gnomAD frequency: 0.00004  dbSNP: rs377541724
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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 RCV000721754 SCV000852886 uncertain significance not provided 2016-02-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001313656 SCV001504160 uncertain significance RYR1-related disorder 2021-09-08 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 3214 of the RYR1 protein (p.Asn3214Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 590636). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV002493290 SCV002780897 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 2021-11-08 criteria provided, single submitter clinical testing
GeneDx RCV000721754 SCV003929541 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 12668474)
Revvity Omics, Revvity RCV000721754 SCV004236888 uncertain significance not provided 2023-04-12 criteria provided, single submitter clinical testing

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