ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.5050A>G (p.Ile1684Val)

gnomAD frequency: 0.00039  dbSNP: rs770568108
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001244183 SCV001417387 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002568578 SCV003657651 uncertain significance Inborn genetic diseases 2022-11-29 criteria provided, single submitter clinical testing The c.5806A>G (p.I1936V) alteration is located in exon 19 (coding exon 19) of the WNK1 gene. This alteration results from a A to G substitution at nucleotide position 5806, causing the isoleucine (I) at amino acid position 1936 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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