ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.629G>A (p.Arg210Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004053800 SCV002660964 uncertain significance not specified 2024-08-17 criteria provided, single submitter clinical testing The p.R210Q variant (also known as c.629G>A), located in coding exon 3 of the GALNT12 gene, results from a G to A substitution at nucleotide position 629. The arginine at codon 210 is replaced by glutamine, an amino acid with highly 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. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Baylor Genetics RCV003464473 SCV004198485 uncertain significance Colorectal cancer, susceptibility to, 1 2023-02-08 criteria provided, single submitter clinical testing

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