ClinVar Miner

Submissions for variant NC_000017.11:g.(?_80104542)_(80105914_?)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 RCV000631118 SCV000752113 pathogenic Glycogen storage disease, type II 2023-06-24 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2-3 of the GAA gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GAA are known to be pathogenic (PMID: 18425781, 22252923). For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with glycogen storage disease type II (PMID: 22252923).

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