ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2707_2709del (p.Lys903del)

dbSNP: rs121907939
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001376754 SCV001573917 pathogenic Glycogen storage disease, type II 2023-06-27 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of Pompe disease (PMID: 7717400; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This variant, c.2707_2709del, results in the deletion of 1 amino acid(s) of the GAA protein (p.Lys903del), but otherwise preserves the integrity of the reading frame. ClinVar contains an entry for this variant (Variation ID: 4028). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects GAA function (PMID: 7717400, 21972175). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant.
OMIM RCV000004243 SCV000024409 pathogenic Glycogen storage disease type II, infantile 1995-04-01 no assertion criteria provided literature only

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