ClinVar Miner

Submissions for variant NM_213655.5(WNK1):c.3107C>T (p.Ala1036Val)

gnomAD frequency: 0.00009  dbSNP: rs187534119
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001038247 SCV001201711 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2025-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001566097 SCV001789566 uncertain significance not provided 2021-11-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002320240 SCV002607824 uncertain significance Inborn genetic diseases 2020-06-29 criteria provided, single submitter clinical testing The p.A1036V variant (also known as c.3107C>T), located in coding exon 10 of the WNK1 gene, results from a C to T substitution at nucleotide position 3107. The alanine at codon 1036 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV001566097 SCV004226273 uncertain significance not provided 2022-02-11 criteria provided, single submitter clinical testing BP4

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