ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.5720C>T (p.Pro1907Leu)

gnomAD frequency: 0.00026  dbSNP: rs200979623
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647832 SCV000769635 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-10-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261155 SCV002541181 uncertain significance not provided 2021-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360614 SCV002660740 uncertain significance Inborn genetic diseases 2023-09-15 criteria provided, single submitter clinical testing The c.6476C>T (p.P2159L) alteration is located in exon 24 (coding exon 24) of the WNK1 gene. This alteration results from a C to T substitution at nucleotide position 6476, causing the proline (P) at amino acid position 2159 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000647832 SCV005631503 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-04-11 criteria provided, single submitter clinical testing

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