ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1160TGG[1] (p.Val388del)

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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 RCV002814630 SCV003198460 uncertain significance Glycogen storage disease, type II 2022-05-12 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 has not been reported in the literature in individuals affected with GAA-related conditions. This variant is present in population databases (rs778970166, gnomAD 0.007%). This variant, c.1163_1165del, results in the deletion of 1 amino acid(s) of the GAA protein (p.Val388del), but otherwise preserves the integrity of the reading frame.

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