ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.692G>T (p.Cys231Phe)

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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 RCV004924215 SCV005593896 uncertain significance not specified 2024-11-03 criteria provided, single submitter clinical testing The p.C231F variant (also known as c.692G>T), located in coding exon 3 of the GALNT12 gene, results from a G to T substitution at nucleotide position 692. The cysteine at codon 231 is replaced by phenylalanine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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