ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.3209+4C>T

gnomAD frequency: 0.00002  dbSNP: rs768185780
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001318654 SCV001509366 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2020-01-25 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with WNK1-related conditions. This variant is present in population databases (rs768185780, ExAC 0.01%). This sequence change falls in intron 13 of the WNK1 gene. It does not directly change the encoded amino acid sequence of the WNK1 protein, but it affects a nucleotide within the consensus splice site of the intron.
Ambry Genetics RCV004034945 SCV004978877 uncertain significance Inborn genetic diseases 2023-12-28 criteria provided, single submitter clinical testing The c.3965+4C>T intronic alteration consists of a C to T substitution 4 nucleotides after coding exon 13 in the WNK1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001318654 SCV005631675 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-05-20 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.