ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.868G>A (p.Ala290Thr)

dbSNP: rs2060551878
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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 RCV001878477 SCV002127178 uncertain significance ALG12-congenital disorder of glycosylation 2021-04-08 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ALG12-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 290 of the ALG12 protein (p.Ala290Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine.
Ambry Genetics RCV002547953 SCV003668617 uncertain significance Inborn genetic diseases 2022-12-13 criteria provided, single submitter clinical testing The c.868G>A (p.A290T) alteration is located in exon 7 (coding exon 6) of the ALG12 gene. This alteration results from a G to A substitution at nucleotide position 868, causing the alanine (A) at amino acid position 290 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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