ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.12951_12959GCGGCGGCT[3] (p.4318_4320RRL[3]) (rs193922846)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000119470 SCV000575184 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV000811546 SCV000951816 uncertain significance RYR1-Related Disorders 2018-08-10 criteria provided, single submitter clinical testing This variant, c.12960_12968dupGCGGCGGCT, results in the insertion of 3 amino acids to the RYR1 protein (p.Arg4321_Leu4323dup), but otherwise preserves the integrity of the reading frame. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual affected with increased serum creatine kinase and malignant hyperthermia susceptibility (PMID: 16732084). This variant is also known as c.12959_12967dup, L4320_R4322dup in the literature. ClinVar contains an entry for this variant (Variation ID: 133044). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. 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.
Leiden Muscular Dystrophy (RYR1) RCV000119470 SCV000154377 not provided not provided no assertion provided not provided
PreventionGenetics RCV000119470 SCV000852328 likely benign not provided 2018-03-11 criteria provided, single submitter clinical testing

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