Submissions for variant NM_018979.4(WNK1):c.865T>C (p.Ser289Pro)

gnomAD frequency: 0.00022  dbSNP: rs200234585

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000691306	SCV000819081	likely benign	Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C	2023-12-21	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000691306	SCV000894804	uncertain significance	Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C	2018-10-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002442441	SCV002683333	uncertain significance	Inborn genetic diseases	2023-06-23	criteria provided, single submitter	clinical testing	The c.865T>C (p.S289P) alteration is located in exon 2 (coding exon 2) of the WNK1 gene. This alteration results from a T to C substitution at nucleotide position 865, causing the serine (S) at amino acid position 289 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic	RCV003480773	SCV004226270	uncertain significance	not provided	2022-10-28	criteria provided, single submitter	clinical testing	PM2
CeGaT Center for Human Genetics Tuebingen	RCV003480773	SCV004810903	uncertain significance	not provided	2024-03-01	criteria provided, single submitter	clinical testing	WNK1: PM2, PP2