ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.1246G>A (p.Glu416Lys)

dbSNP: rs2513154078
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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 RCV002394157 SCV002674309 uncertain significance Inborn genetic diseases 2018-01-18 criteria provided, single submitter clinical testing The p.E416K variant (also known as c.1246G>A), located in coding exon 12 of the PIGN gene, results from a G to A substitution at nucleotide position 1246. The glutamic acid at codon 416 is replaced by lysine, an amino acid with similar properties. This amino acid position is well 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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