ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.1612T>A (p.Ser538Thr)

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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 RCV004517678 SCV005028832 uncertain significance not specified 2023-11-30 criteria provided, single submitter clinical testing The p.S538T variant (also known as c.1612T>A), located in coding exon 10 of the GALNT12 gene, results from a T to A substitution at nucleotide position 1612. The serine at codon 538 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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