ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.1237A>G (p.Arg413Gly)

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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 RCV004517656 SCV005028822 uncertain significance not specified 2023-10-24 criteria provided, single submitter clinical testing The p.R413G variant (also known as c.1237A>G), located in coding exon 7 of the GALNT12 gene, results from an A to G substitution at nucleotide position 1237. The arginine at codon 413 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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