ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.564C>T (p.Gly188=) (rs72647371)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543807 SCV000649455 uncertain significance Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 2018-07-24 criteria provided, single submitter clinical testing This sequence change affects codon 188 of the WNK1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the WNK1 protein. This variant is present in population databases (rs72647371, ExAC 0.07%) but has not been reported in the literature in individuals with a WNK1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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