ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.1697G>A (p.Cys566Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004060490 SCV002715443 uncertain significance not specified 2022-10-29 criteria provided, single submitter clinical testing The p.C566Y variant (also known as c.1697G>A), located in coding exon 10 of the GALNT12 gene, results from a G to A substitution at nucleotide position 1697. The cysteine at codon 566 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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