ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.553G>A (p.Glu185Lys)

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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 RCV004924232 SCV005593922 uncertain significance not specified 2024-08-14 criteria provided, single submitter clinical testing The p.E185K variant (also known as c.553G>A), located in coding exon 3 of the GALNT12 gene, results from a G to A substitution at nucleotide position 553. The glutamic acid at codon 185 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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