ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.1067C>T (p.Ala356Val)

dbSNP: rs866503885
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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 RCV002009651 SCV002300343 uncertain significance ALG12-congenital disorder of glycosylation 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 356 of the ALG12 protein (p.Ala356Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. 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 valine 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.

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