ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.166G>A (p.Asp56Asn)

gnomAD frequency: 0.00002  dbSNP: rs201033281
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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 RCV001937032 SCV002225740 uncertain significance ALG12-congenital disorder of glycosylation 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 56 of the ALG12 protein (p.Asp56Asn). This variant is present in population databases (rs201033281, gnomAD 0.08%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV002562235 SCV003683669 uncertain significance Inborn genetic diseases 2022-06-01 criteria provided, single submitter clinical testing The c.166G>A (p.D56N) alteration is located in exon 3 (coding exon 2) of the ALG12 gene. This alteration results from a G to A substitution at nucleotide position 166, causing the aspartic acid (D) at amino acid position 56 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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