ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2711_2717delinsCAAAGGATCTGAT (p.Leu904_Gln906delinsProLysAspLeuMet) (rs1288036533)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811633 SCV000951908 uncertain significance Glycogen storage disease type III 2018-12-17 criteria provided, single submitter clinical testing This variant, c.2711_2717delins13, is a complex sequence change that results in the deletion of 3 and insertion of 5 amino acids of the AGL protein (p.Gln904_906delinsProLysAspLeuMet). This variant is not present in population databases (ExAC no frequency). This variant has been observed as homozygous or in combination with another AGL variant in individuals suspected with glycogen storage disease (PMID: 26913919, Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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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