ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.436C>T (p.Arg146Trp)

gnomAD frequency: 0.00005  dbSNP: rs567368110
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732091 SCV000859996 uncertain significance not provided 2018-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868972 SCV002124212 uncertain significance ALG12-congenital disorder of glycosylation 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 146 of the ALG12 protein (p.Arg146Trp). This variant is present in population databases (rs567368110, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ALG12-related conditions. ClinVar contains an entry for this variant (Variation ID: 596305). 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 expected to disrupt ALG12 protein function with a positive predictive value of 80%. 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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