ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.5851A>G (p.Thr1951Ala)

gnomAD frequency: 0.00020  dbSNP: rs72650764
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692654 SCV000820488 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-01-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001108934 SCV001266232 benign Pseudohypoaldosteronism type 2C 2017-11-15 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Ambry Genetics RCV002360748 SCV002663442 uncertain significance Inborn genetic diseases 2021-06-25 criteria provided, single submitter clinical testing The p.T2203A variant (also known as c.6607A>G), located in coding exon 24 of the WNK1 gene, results from an A to G substitution at nucleotide position 6607. The threonine at codon 2203 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, alanine is the reference amino acid in other 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.
Athena Diagnostics RCV003482299 SCV004229430 uncertain significance not provided 2023-09-06 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is higher than would generally be expected for pathogenic variants in this gene (http://gnomad.broadinstitute.org). In some published literature, this variant is referred to as c.5851A>G (p.T1951A). Computational tools disagree on the variant's effect on normal protein function.

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