ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.1610G>T (p.Gly537Val)

gnomAD frequency: 0.00001  dbSNP: rs756834523
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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 RCV001886478 SCV002152978 uncertain significance not provided 2021-04-05 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 537 of the GALNT12 protein (p.Gly537Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs756834523, ExAC 0.01%). This variant has not been reported in the literature in individuals with GALNT12-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Ambry Genetics RCV004041202 SCV002706479 uncertain significance not specified 2024-02-10 criteria provided, single submitter clinical testing The p.G537V variant (also known as c.1610G>T), located in coding exon 10 of the GALNT12 gene, results from a G to T substitution at nucleotide position 1610. The glycine at codon 537 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004571507 SCV005058824 uncertain significance Colorectal cancer, susceptibility to, 1 2024-01-22 criteria provided, single submitter clinical testing

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