ClinVar Miner

Submissions for variant NM_213655.5(WNK1):c.2420G>A (p.Gly807Glu)

dbSNP: rs760693826
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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 RCV002450400 SCV002735180 uncertain significance Inborn genetic diseases 2022-07-27 criteria provided, single submitter clinical testing The p.G807E variant (also known as c.2420G>A), located in coding exon 10 of the WNK1 gene, results from a G to A substitution at nucleotide position 2420. The glycine at codon 807 is replaced by glutamic acid, an amino acid with similar 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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