ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.215C>T (p.Ala72Val)

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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 RCV004623735 SCV005119894 uncertain significance not specified 2024-05-19 criteria provided, single submitter clinical testing The p.A72V variant (also known as c.215C>T), located in coding exon 1 of the GALNT12 gene, results from a C to T substitution at nucleotide position 215. The alanine at codon 72 is replaced by valine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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