ClinVar Miner

Submissions for variant NC_000007.13:g.(?_151478218)_(151483647_?)del

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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 RCV001950545 SCV002217774 uncertain significance Lethal congenital glycogen storage disease of heart 2021-08-21 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 is a gross deletion of the genomic region encompassing exon(s) 2-3 of the PRKAG2 gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and 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 PRKAG2 cause disease. This variant has not been reported in the literature in individuals affected with PRKAG2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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