ClinVar Miner

Submissions for variant NC_000007.13:g.(?_151372486)_(151483647_?)dup

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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 RCV000641202 SCV000762840 uncertain significance Lethal congenital glycogen storage disease of heart 2017-11-27 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with PRKAG2-related disease. This variant is a gross duplication of the genomic region encompassing exons 2-4 of the PRKAG2 gene. While the exact position of the duplicated exons cannot be determined from this data, sub-genic duplications are generally in tandem (PMID: 25640679). This duplication would be expected to be in-frame, preserving the integrity of the reading frame. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown.

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