ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.226G>A (p.Gly76Ser)

gnomAD frequency: 0.00004  dbSNP: rs1036085286
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001070873 SCV001236151 uncertain significance not provided 2023-02-04 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 863818). This variant has not been reported in the literature in individuals affected with GALNT12-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 76 of the GALNT12 protein (p.Gly76Ser).
Ambry Genetics RCV004030764 SCV002736619 uncertain significance not specified 2023-04-05 criteria provided, single submitter clinical testing The p.G76S variant (also known as c.226G>A), located in coding exon 1 of the GALNT12 gene, results from a G to A substitution at nucleotide position 226. The glycine at codon 76 is replaced by serine, 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 tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Baylor Genetics RCV004570306 SCV005058842 uncertain significance Colorectal cancer, susceptibility to, 1 2023-12-14 criteria provided, single submitter clinical testing

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