ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.959T>C (p.Leu320Pro)

gnomAD frequency: 0.00001  dbSNP: rs1200180536
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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 RCV002036691 SCV002317760 uncertain significance ALG12-congenital disorder of glycosylation 2021-08-22 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 320 of the ALG12 protein (p.Leu320Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. 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 disruptive. 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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