ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.610A>G (p.Lys204Glu)

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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 RCV004053256 SCV002661079 uncertain significance not specified 2021-10-27 criteria provided, single submitter clinical testing The p.K204E variant (also known as c.610A>G), located in coding exon 3 of the GALNT12 gene, results from an A to G substitution at nucleotide position 610. The lysine at codon 204 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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