ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.395A>G (p.Tyr132Cys)

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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 RCV004050475 SCV002619509 uncertain significance not specified 2021-11-22 criteria provided, single submitter clinical testing The p.Y132C variant (also known as c.395A>G), located in coding exon 2 of the GALNT12 gene, results from an A to G substitution at nucleotide position 395. The tyrosine at codon 132 is replaced by cysteine, 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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