ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.203C>T (p.Pro68Leu)

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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 RCV004059596 SCV002720272 uncertain significance not specified 2021-06-22 criteria provided, single submitter clinical testing The p.P68L variant (also known as c.203C>T), located in coding exon 1 of the GALNT12 gene, results from a C to T substitution at nucleotide position 203. The proline at codon 68 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. 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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