ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.968C>T (p.Thr323Met)

gnomAD frequency: 0.00001  dbSNP: rs754936149
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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 RCV001954693 SCV002196027 uncertain significance ALG12-congenital disorder of glycosylation 2022-04-28 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 323 of the ALG12 protein (p.Thr323Met). This variant is present in population databases (rs754936149, gnomAD 0.009%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
PreventionGenetics, part of Exact Sciences RCV003892956 SCV004710404 uncertain significance ALG12-related disorder 2024-02-02 no assertion criteria provided clinical testing The ALG12 c.968C>T variant is predicted to result in the amino acid substitution p.Thr323Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0093% of alleles in individuals of European (Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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