ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.1069G>A (p.Ala357Thr)

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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 RCV002903844 SCV003251040 uncertain significance ALG12-congenital disorder of glycosylation 2021-12-22 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with ALG12-related conditions. This variant is present in population databases (rs778740717, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 357 of the ALG12 protein (p.Ala357Thr).
Ambry Genetics RCV004066136 SCV004889348 uncertain significance Inborn genetic diseases 2024-01-16 criteria provided, single submitter clinical testing The c.1069G>A (p.A357T) alteration is located in exon 8 (coding exon 7) of the ALG12 gene. This alteration results from a G to A substitution at nucleotide position 1069, causing the alanine (A) at amino acid position 357 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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