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

gnomAD frequency: 0.00006  dbSNP: rs201995891

Total submissions: 6

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
Labcorp Genetics (formerly Invitae), Labcorp	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