ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1637-10_1637-9delinsGA

dbSNP: rs2143882002
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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 RCV001872270 SCV002117844 uncertain significance Glycogen storage disease, type II 2024-02-24 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the GAA gene. It does not directly change the encoded amino acid sequence of the GAA protein. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with GAA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1359491). 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.

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