ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.375C>G (p.Cys125Trp)

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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 RCV004048025 SCV002625906 uncertain significance not specified 2021-11-17 criteria provided, single submitter clinical testing The p.C125W variant (also known as c.375C>G), located in coding exon 2 of the GALNT12 gene, results from a C to G substitution at nucleotide position 375. The cysteine at codon 125 is replaced by tryptophan, 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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