ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.1738A>T (p.Met580Leu)

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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 RCV004060724 SCV002713305 uncertain significance not specified 2022-10-09 criteria provided, single submitter clinical testing The p.M580L variant (also known as c.1738A>T), located in coding exon 10 of the GALNT12 gene, results from an A to T substitution at nucleotide position 1738. The methionine at codon 580 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. 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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