ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.575C>G (p.Ser192Trp)

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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 RCV004054053 SCV002648580 uncertain significance not specified 2024-11-12 criteria provided, single submitter clinical testing The p.S192W variant (also known as c.575C>G), located in coding exon 3 of the GALNT12 gene, results from a C to G substitution at nucleotide position 575. The serine at codon 192 is replaced by tryptophan, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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