ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.615A>C (p.Arg205Ser)

dbSNP: rs1588446598
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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 RCV004030861 SCV001187056 uncertain significance not specified 2022-12-12 criteria provided, single submitter clinical testing The p.R205S variant (also known as c.615A>C), located in coding exon 3 of the GALNT12 gene, results from an A to C substitution at nucleotide position 615. The arginine at codon 205 is replaced by serine, 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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