ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.782A>G (p.Asp261Gly)

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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 RCV004517705 SCV005028957 uncertain significance not specified 2024-01-12 criteria provided, single submitter clinical testing The p.D261G variant (also known as c.782A>G), located in coding exon 4 of the GALNT12 gene, results from an A to G substitution at nucleotide position 782. The aspartic acid at codon 261 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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