ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.214G>A (p.Ala72Thr)

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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 RCV004061030 SCV002728033 uncertain significance not specified 2024-11-17 criteria provided, single submitter clinical testing The p.A72T variant (also known as c.214G>A), located in coding exon 1 of the GALNT12 gene, results from a G to A substitution at nucleotide position 214. The alanine at codon 72 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. 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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