ClinVar Miner

Submissions for variant NM_213655.5(WNK1):c.2360G>A (p.Arg787Gln)

gnomAD frequency: 0.00061  dbSNP: rs550716144
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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 RCV001052255 SCV001216457 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002445276 SCV002733195 uncertain significance Inborn genetic diseases 2022-06-13 criteria provided, single submitter clinical testing The p.R787Q variant (also known as c.2360G>A), located in coding exon 9 of the WNK1 gene, results from a G to A substitution at nucleotide position 2360. The arginine at codon 787 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well 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.
Breakthrough Genomics, Breakthrough Genomics RCV004693522 SCV005191589 uncertain significance not provided criteria provided, single submitter not provided

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