ClinVar Miner

Submissions for variant NM_032387.5(WNK4):c.2005C>T (p.Arg669Trp)

gnomAD frequency: 0.00006  dbSNP: rs769815091
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000402811 SCV000402948 likely benign Pseudohypoaldosteronism type 2B 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV002522972 SCV003481604 likely benign not provided 2022-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243078 SCV003943047 uncertain significance Inborn genetic diseases 2023-03-16 criteria provided, single submitter clinical testing The c.2005C>T (p.R669W) alteration is located in exon 10 (coding exon 10) of the WNK4 gene. This alteration results from a C to T substitution at nucleotide position 2005, causing the arginine (R) at amino acid position 669 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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