ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.3970ACA[2] (p.Thr1326del)

dbSNP: rs763363972
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236685 SCV001409418 uncertain significance Epileptic encephalopathy 2019-10-28 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with RYR3-related conditions. This variant, c.3976_3978del, results in the deletion of 1 amino acid(s) of the RYR3 protein (p.Thr1326del), but otherwise preserves the integrity of the reading frame.

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