ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.959-72_965dup (rs1553185268)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527128 SCV000626771 uncertain significance Glycogen storage disease type III 2017-08-05 criteria provided, single submitter clinical testing This sequence change duplicates the last 72 nucleotides of intron 7 and the first 7 nucleotides of exon 8 of the AGL mRNA (c.959-72_965dup).  It is expected to either cause a frameshift at codon 322, followed by a premature translational stop signal (p.Arg322Serfs*2), or to have no protein effect due to utilization of a newly created alternate splice site. This variant has not been reported in the literature in individuals with AGL-related disease. Experimental studies have not been reported for this variant. If the canonical splice site is maintained and the duplicated sequence is translated, then this variant is expected to result in an absent or disrupted AGL protein product. However, if the canonical splice site is not used, alternative splicing using the newly created splice site would likely have no effect on the translated protein. 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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