ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.462G>T (p.Arg154=)

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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 RCV004331700 SCV004004118 uncertain significance not specified 2023-03-31 criteria provided, single submitter clinical testing The c.462G>T variant (also known as p.R154R), located in coding exon 2 of the GALNT12 gene, results from a G to T substitution at nucleotide position 462. This nucleotide substitution does not change the arginine at codon 154. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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