ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.475G>A (p.Val159Ile)

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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 RCV004052079 SCV002640373 uncertain significance not specified 2021-09-08 criteria provided, single submitter clinical testing The p.V159I variant (also known as c.475G>A), located in coding exon 2 of the GALNT12 gene, results from a G to A substitution at nucleotide position 475. The valine at codon 159 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003471343 SCV004198482 uncertain significance Colorectal cancer, susceptibility to, 1 2023-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003730088 SCV004533058 uncertain significance not provided 2023-05-24 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: 1742893). This variant has not been reported in the literature in individuals affected with GALNT12-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 159 of the GALNT12 protein (p.Val159Ile).

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