ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.1493A>C (p.Tyr498Ser)

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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 RCV004517671 SCV005028177 uncertain significance not specified 2024-02-25 criteria provided, single submitter clinical testing The p.Y498S variant (also known as c.1493A>C), located in coding exon 9 of the GALNT12 gene, results from an A to C substitution at nucleotide position 1493. The tyrosine at codon 498 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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