ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.1445T>C (p.Met482Thr)

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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 RCV004331714 SCV004004132 uncertain significance not specified 2023-04-25 criteria provided, single submitter clinical testing The p.M482T variant (also known as c.1445T>C), located in coding exon 8 of the GALNT12 gene, results from a T to C substitution at nucleotide position 1445. The methionine at codon 482 is replaced by threonine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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