ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.318_323dup (p.Gly107_Cys108dup)

dbSNP: rs2143827403
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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 RCV002017405 SCV002292101 uncertain significance Glycogen storage disease, type II 2021-09-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant, c.318_323dup, results in the insertion of 2 amino acid(s) to the GAA protein (p.Gly107_Cys108dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Pompe disease (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant.

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