ClinVar Miner

Submissions for variant NM_213655.5(WNK1):c.2726C>T (p.Pro909Leu)

gnomAD frequency: 0.00001  dbSNP: rs2548787342
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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 RCV002431332 SCV002743618 uncertain significance Inborn genetic diseases 2021-01-14 criteria provided, single submitter clinical testing The p.P909L variant (also known as c.2726C>T), located in coding exon 10 of the WNK1 gene, results from a C to T substitution at nucleotide position 2726. The proline at codon 909 is replaced by leucine, an amino acid with similar properties. This amino acid position is not 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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