ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.1738A>G (p.Met580Val)

dbSNP: rs1060502966
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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 RCV001324449 SCV001515402 uncertain significance not provided 2016-06-17 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces methionine with valine at codon 580 of the GALNT12 protein (p.Met580Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a GALNT12-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The valine amino acid residue is also found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies.
Ambry Genetics RCV004022793 SCV002710222 uncertain significance not specified 2023-10-16 criteria provided, single submitter clinical testing The p.M580V variant (also known as c.1738A>G), located in coding exon 10 of the GALNT12 gene, results from an A to G substitution at nucleotide position 1738. The methionine at codon 580 is replaced by valine, 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.

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