ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.838G>A (p.Asp280Asn)

dbSNP: rs748104709
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004022798 SCV001178795 uncertain significance not specified 2023-09-01 criteria provided, single submitter clinical testing The p.D280N variant (also known as c.838G>A), located in coding exon 4 of the GALNT12 gene, results from a G to A substitution at nucleotide position 838. The aspartic acid at codon 280 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001309208 SCV001498698 uncertain significance not provided 2025-02-03 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 280 of the GALNT12 protein (p.Asp280Asn). This variant is present in population databases (rs748104709, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with GALNT12-related conditions. ClinVar contains an entry for this variant (Variation ID: 410587). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt GALNT12 protein function with a negative 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.
Baylor Genetics RCV003470473 SCV004196142 uncertain significance Colorectal cancer, susceptibility to, 1 2024-03-19 criteria provided, single submitter clinical testing

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