ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.6958A>G (p.Met2320Val)

gnomAD frequency: 0.00003  dbSNP: rs144574284
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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 RCV001401427 SCV001603250 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-10-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690101 SCV005185020 uncertain significance not specified 2024-05-23 criteria provided, single submitter clinical testing Variant summary: WNK1 c.6958A>G (p.Met2320Val) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00013 in 251452 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in WNK1 causing Neuropathy, Hereditary Sensory And Autonomic, Type 2A, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.6958A>G in individuals affected with Neuropathy, Hereditary Sensory And Autonomic, Type 2A and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1084421). Based on the evidence outlined above, the variant was classified as uncertain significance.

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