ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.197C>G (p.Pro66Arg)

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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 RCV004924221 SCV005593906 uncertain significance not specified 2024-07-09 criteria provided, single submitter clinical testing The p.P66R variant (also known as c.197C>G), located in coding exon 1 of the GALNT12 gene, results from a C to G substitution at nucleotide position 197. The proline at codon 66 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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