ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.1008A>C (p.Lys336Asn)

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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 RCV003607774 SCV004398954 uncertain significance ALG12-congenital disorder of glycosylation 2023-03-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ALG12-related conditions. 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. 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. This variant is present in population databases (rs760024890, gnomAD 0.008%). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 336 of the ALG12 protein (p.Lys336Asn).

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