ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.631G>A (p.Ala211Thr)

gnomAD frequency: 0.00007  dbSNP: rs377671466
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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 RCV004030865 SCV001187267 uncertain significance not specified 2024-08-07 criteria provided, single submitter clinical testing The p.A211T variant (also known as c.631G>A), located in coding exon 3 of the GALNT12 gene, results from a G to A substitution at nucleotide position 631. The alanine at codon 211 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001043992 SCV001207764 uncertain significance not provided 2023-05-21 criteria provided, single submitter clinical testing 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 GALNT12 protein function. 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. ClinVar contains an entry for this variant (Variation ID: 826322). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 211 of the GALNT12 protein (p.Ala211Thr). This variant is present in population databases (rs377671466, gnomAD 0.03%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with GALNT12-related conditions.
Baylor Genetics RCV003461404 SCV004198425 uncertain significance Colorectal cancer, susceptibility to, 1 2024-03-22 criteria provided, single submitter clinical testing

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