ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.602G>A (p.Arg201His)

dbSNP: rs776800914
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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 RCV004030860 SCV001186910 uncertain significance not specified 2024-02-09 criteria provided, single submitter clinical testing The p.R201H variant (also known as c.602G>A), located in coding exon 3 of the GALNT12 gene, results from a G to A substitution at nucleotide position 602. The arginine at codon 201 is replaced by histidine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003461401 SCV004197958 uncertain significance Colorectal cancer, susceptibility to, 1 2024-02-22 criteria provided, single submitter clinical testing

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