ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.1900C>T (p.Arg634Ter)

gnomAD frequency: 0.00001  dbSNP: rs780640652
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815696 SCV000956161 uncertain significance Epileptic encephalopathy 2018-09-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg634*) in the RYR3 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs780640652, ExAC 0.006%). This variant has not been reported in the literature in individuals with RYR3-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RYR3 cause disease. 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.

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