ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2433+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001532921 SCV001748723 likely pathogenic Glycogen storage disease type III 2021-07-05 criteria provided, single submitter clinical testing Variant summary: AGL c.2433+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes the canonical 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 250908 control chromosomes. c.2433+1G>A has been reported in the literature in individuals affected with Glycogen Storage Disease Type III (example, Wang_2009). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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