ClinVar Miner

Submissions for variant NM_213655.5(WNK1):c.2995C>G (p.Leu999Val)

gnomAD frequency: 0.00046  dbSNP: rs72649856
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001208855 SCV001380264 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436804 SCV002747001 uncertain significance Inborn genetic diseases 2020-11-12 criteria provided, single submitter clinical testing The p.L999V variant (also known as c.2995C>G), located in coding exon 10 of the WNK1 gene, results from a C to G substitution at nucleotide position 2995. The leucine at codon 999 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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