ClinVar Miner

Submissions for variant NC_000015.9:g.(?_34156329)_(34156400_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001351091 SCV001545526 uncertain significance Epileptic encephalopathy 2022-07-26 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 103 of the RYR3 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RYR3 cause disease. This variant has not been reported in the literature in individuals affected with RYR3-related conditions. 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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