ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.520G>A (p.Val174Ile)

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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 RCV004051701 SCV002644452 uncertain significance not specified 2022-04-10 criteria provided, single submitter clinical testing The p.V174I variant (also known as c.520G>A), located in coding exon 2 of the GALNT12 gene, results from a G to A substitution at nucleotide position 520. The valine at codon 174 is replaced by isoleucine, an amino acid with highly similar 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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