ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.241G>A (p.Ala81Thr)

gnomAD frequency: 0.00006  dbSNP: rs770434145
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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 RCV001886542 SCV002152759 uncertain significance ALG12-congenital disorder of glycosylation 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 81 of the ALG12 protein (p.Ala81Thr). This variant is present in population databases (rs770434145, gnomAD 0.02%). This missense change has been observed in individual(s) with ALG12-congenital disorder of glycosylation (CDG-Ig) (PMID: 16435218). ClinVar contains an entry for this variant (Variation ID: 1381071). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ALG12 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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