ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2481+110_2646+39del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813887 SCV000954269 pathogenic Glycogen storage disease, type II 2018-12-03 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 18 of the GAA gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. Loss-of-function variants, including gross deletions, in GAA are known to be pathogenic. Deletion of exon 18 has been reported in the literature in multiple individuals affected with glycogen storage disease type II, also known as Pompe disease (PMID: 18607768, 8558570, 17723315, 15121988, 19588081, 25752415, 24844452). This deletion is also known as c.2481+102_2646+31del (p.Gly828_Asn882del) in the literature. For these reasons, this variant has been classified as Pathogenic.

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