ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.1246_1247del (p.Lys416fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242412 SCV001415498 uncertain significance ALG12-congenital disorder of glycosylation 2019-10-05 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the ALG12 gene (p.Lys416Glufs*268). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 23 amino acids of the ALG12 protein and extend the protein by an additional 268 amino acids. This variant is present in population databases (rs746988876, ExAC 0.002%). This variant has not been reported in the literature in individuals with ALG12-related conditions. 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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