ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1718_1720dup (p.Ile573dup) (rs1553186221)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531001 SCV000626677 uncertain significance Glycogen storage disease type III 2017-10-09 criteria provided, single submitter clinical testing This sequence change inserts 3 nucleotides in exon 13 of the AGL mRNA (c.1718_1720dupTTA). This leads to the insertion of 1 amino acid residue in the AGL protein (p.Ile573dup) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an AGL-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid is currently unknown. In summary, this variant is a novel in-frame duplication with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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