ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.535G>A (p.Ala179Thr)

gnomAD frequency: 0.00002  dbSNP: rs952664215
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001558466 SCV001780414 uncertain significance not provided 2020-07-08 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001859385 SCV002146634 uncertain significance ALG12-congenital disorder of glycosylation 2021-10-20 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 179 of the ALG12 protein (p.Ala179Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). 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 threonine 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.
Breakthrough Genomics, Breakthrough Genomics RCV001558466 SCV005194523 uncertain significance not provided criteria provided, single submitter not provided

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