ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.1834G>A (p.Gly612Ser)

gnomAD frequency: 0.00014  dbSNP: rs146450828
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000322058 SCV000381818 benign Pseudohypoaldosteronism type 2C 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000647879 SCV000769682 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-01-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508679 SCV001714997 uncertain significance not provided 2020-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001508679 SCV002048820 uncertain significance not provided 2021-08-13 criteria provided, single submitter clinical testing The WNK1 c.1834G>A; p.Gly612Ser variant (rs146450828), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 310740). This variant is found in the Latino population with an allele frequency of 0.079% (28 /35420 alleles) in the Genome Aggregation Database. The glycine at codon 612 is moderately conserved, and computational analyses predict that this variant is neutral (REVEL: 0.086). Due to limited information, the clinical significance of the p.Gly612Ser variant is uncertain at this time.
Ambry Genetics RCV002411203 SCV002711558 uncertain significance Inborn genetic diseases 2022-11-09 criteria provided, single submitter clinical testing The c.1834G>A (p.G612S) alteration is located in exon 7 (coding exon 7) of the WNK1 gene. This alteration results from a G to A substitution at nucleotide position 1834, causing the glycine (G) at amino acid position 612 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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