ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.2459C>G (p.Ser820Cys)

gnomAD frequency: 0.00074  dbSNP: rs74056058
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000951805 SCV001098243 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2022-10-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811549 SCV001471869 uncertain significance not provided 2020-02-14 criteria provided, single submitter clinical testing The WNK1 c.2459C>G; p.Ser820Cys variant (rs74056058), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found in the African population with an overall allele frequency of 0.30% (74/24926 alleles) in the Genome Aggregation Database. The serine at codon 820 is highly conserved, but computational analyses (SIFT: tolerated, PolyPhen-2: damaging) predict conflicting effects of this variant on protein structure/function. Given the lack of clinical and functional data, the significance of the p.Ser820Cys variant is uncertain at this time.

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