ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.1621-3T>C

gnomAD frequency: 0.00001  dbSNP: rs746698174
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794489 SCV000933901 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2022-12-20 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. Variants that disrupt 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. ClinVar contains an entry for this variant (Variation ID: 641282). This variant has not been reported in the literature in individuals affected with WNK1-related conditions. This variant is present in population databases (rs746698174, gnomAD 0.003%). This sequence change falls in intron 6 of the WNK1 gene. It does not directly change the encoded amino acid sequence of the WNK1 protein. It affects a nucleotide within the consensus splice site.
Fulgent Genetics, Fulgent Genetics RCV000794489 SCV002775670 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2022-02-16 criteria provided, single submitter clinical testing

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