ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu)

gnomAD frequency: 0.00006  dbSNP: rs201995891
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176498 SCV000228164 uncertain significance not provided 2014-12-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000288019 SCV000375082 likely benign Pseudohypoaldosteronism type 2A 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000345610 SCV000375083 likely benign Hereditary sensory and autonomic neuropathy type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001043119 SCV001206834 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362898 SCV002658202 uncertain significance Inborn genetic diseases 2019-11-12 criteria provided, single submitter clinical testing The p.I2164L variant (also known as c.6490A>C), located in coding exon 24 of the WNK1 gene, results from an A to C substitution at nucleotide position 6490. The isoleucine at codon 2164 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is poorly 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.
GeneDx RCV000176498 SCV003803498 uncertain significance not provided 2022-08-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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