ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.1517G>A (p.Cys506Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV004576650 SCV005058841 uncertain significance Colorectal cancer, susceptibility to, 1 2023-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004621956 SCV005119865 uncertain significance not specified 2024-03-18 criteria provided, single submitter clinical testing The p.C506Y variant (also known as c.1517G>A), located in coding exon 9 of the GALNT12 gene, results from a G to A substitution at nucleotide position 1517. The cysteine at codon 506 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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.

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