ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.6913-7C>A

gnomAD frequency: 0.00009  dbSNP: rs372140871
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001348915 SCV001543241 uncertain significance Epileptic encephalopathy 2020-03-19 criteria provided, single submitter clinical testing 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 is present in population databases (rs372140871, ExAC 0.02%). This sequence change falls in intron 45 of the RYR3 gene. It does not directly change the encoded amino acid sequence of the RYR3 protein. 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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