ClinVar Miner

Submissions for variant NM_213655.5(WNK1):c.2533C>T (p.Arg845Cys)

gnomAD frequency: 0.00011  dbSNP: rs200794710
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000814722 SCV000955144 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-12-12 criteria provided, single submitter clinical testing
GeneDx RCV001731942 SCV001982117 uncertain significance not provided 2023-06-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003353051 SCV004076126 uncertain significance Inborn genetic diseases 2023-07-31 criteria provided, single submitter clinical testing The c.2533C>T (p.R845C) alteration is located in exon 10 (coding exon 10) of the WNK1 gene. This alteration results from a C to T substitution at nucleotide position 2533, causing the arginine (R) at amino acid position 845 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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