ClinVar Miner

Submissions for variant NC_000017.11:g.(?_80107537)_(80113386_?)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 RCV000631119 SCV000752114 likely pathogenic Glycogen storage disease, type II 2017-12-11 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 4-15 of the GAA gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with GAA-related disease. Several sequence variants in exons 4-15 have been determined to be pathogenic (PMID: 11738358, 18429042, 9535769, 17723315, 10338092, 21039225, 17723315). This suggests that these exons are critical for GAA protein function and that loss of these exons may also be pathogenic. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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