ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.543G>T (p.Glu181Asp)

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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 RCV004517699 SCV005028860 uncertain significance not specified 2023-11-22 criteria provided, single submitter clinical testing The p.E181D variant (also known as c.543G>T), located in coding exon 3 of the GALNT12 gene, results from a G to T substitution at nucleotide position 543. The glutamic acid at codon 181 is replaced by aspartic acid, 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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