ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.1156C>G (p.Gln386Glu)

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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 RCV002994454 SCV003299892 uncertain significance ALG12-congenital disorder of glycosylation 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 386 of the ALG12 protein (p.Gln386Glu). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ALG12-related conditions. 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. 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.
Ambry Genetics RCV004632145 SCV005128340 uncertain significance Inborn genetic diseases 2024-05-16 criteria provided, single submitter clinical testing The c.1156C>G (p.Q386E) alteration is located in exon 8 (coding exon 7) of the ALG12 gene. This alteration results from a C to G substitution at nucleotide position 1156, causing the glutamine (Q) at amino acid position 386 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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