ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.2139+2830_2139+2836del

dbSNP: rs773573905
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811374 SCV000951636 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-07-03 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 655247). This variant has not been reported in the literature in individuals affected with WNK1-related conditions. This sequence change falls in intron 8 of the WNK1 gene. It does not directly change the encoded amino acid sequence of the WNK1 protein. This variant is present in population databases (rs773573905, gnomAD 0.007%).

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