ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.934G>T (p.Gly312Cys)

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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 RCV004331726 SCV004004146 uncertain significance not specified 2023-05-25 criteria provided, single submitter clinical testing The p.G312C variant (also known as c.934G>T), located in coding exon 5 of the GALNT12 gene, results from a G to T substitution at nucleotide position 934. The glycine at codon 312 is replaced by cysteine, 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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