ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.188C>G (p.Pro63Arg)

dbSNP: rs1481280788
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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 RCV004030357 SCV001174176 uncertain significance not specified 2018-11-01 criteria provided, single submitter clinical testing The p.P63R variant (also known as c.188C>G), located in coding exon 1 of the GALNT12 gene, results from a C to G substitution at nucleotide position 188. The proline at codon 63 is replaced by arginine, 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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