ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.1467A>C (p.Ter489Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002795774 SCV003033458 uncertain significance ALG12-congenital disorder of glycosylation 2022-04-29 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the ALG12 mRNA. It is expected to extend the length of the ALG12 protein by 29 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected 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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