ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.1265C>T (p.Pro422Leu)

gnomAD frequency: 0.00001  dbSNP: rs759794733
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001896237 SCV002167374 uncertain significance ALG12-congenital disorder of glycosylation 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 422 of the ALG12 protein (p.Pro422Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs759794733, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with ALG12-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV001896237 SCV002789087 uncertain significance ALG12-congenital disorder of glycosylation 2022-05-16 criteria provided, single submitter clinical testing

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