ClinVar Miner

Submissions for variant NM_213655.5(WNK1):c.2172dup (p.Pro725fs)

dbSNP: rs910119961
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000794198 SCV000933592 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-01-23 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001170025 SCV001251699 pathogenic not provided 2020-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424805 SCV002731408 uncertain significance Inborn genetic diseases 2023-12-19 criteria provided, single submitter clinical testing The c.2172dupT (p.P725Sfs*46) alteration, located in exon 9 (coding exon 9) of the WNK1 gene, consists of a duplication of T at position 2172, causing a translational frameshift with a predicted alternate stop codon after 46 amino acids. Frameshift alterations are typically deleterious in nature (Richards, 2015). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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