ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.2140-2518dup (rs137852735)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647840 SCV000769643 pathogenic Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 2017-10-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1093Ilefs*13) in the WNK1 gene. It is expected to result in an absent or disrupted protein product. The WNK1 gene has multiple clinically relevant transcripts. The p.Ser1093Ilefs*13 variant occurs in alternate transcript NM_213655.4, which corresponds to position c.2140-2518dupA in NM_018979.3, the primary transcript listed in the Methods. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the homozygous state and in the compound heterozygous state with a second pathogenic WNK1 variant in individuals affected with hereditary sensory and autonomic neuropathy (HSAN) type II (PMID: 15060842). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Loss-of-function variants in WNK1 are known to be pathogenic (PMID: 22910560). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000020432 SCV000040843 pathologic Hereditary sensory and autonomic neuropathy type IIA 2010-11-23 no assertion criteria provided curation Converted during submission to Pathogenic.

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