ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.594C>T (p.Arg198=)

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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 RCV004052482 SCV002656354 uncertain significance not specified 2022-07-08 criteria provided, single submitter clinical testing The c.594C>T variant (also known as p.R198R), located in coding exon 3 of the GALNT12 gene, results from a C to T substitution at nucleotide position 594. This nucleotide substitution does not change the arginine at codon 198. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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