ClinVar Miner

Submissions for variant NC_000001.10:g.(?_100366182)_(100368360_?)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 RCV003105273 SCV003794297 pathogenic Glycogen storage disease type III 2022-07-29 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 26-27 of the AGL gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in AGL are known to be pathogenic (PMID: 19299494). This variant has not been reported in the literature in individuals affected with AGL-related conditions. For these reasons, this variant has been classified as Pathogenic.

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