ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.7021G>A (p.Gly2341Ser) (rs146042595)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000381486 SCV000375158 likely benign Hereditary sensory and autonomic neuropathy type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291824 SCV000375159 benign Pseudohypoaldosteronism type 2C 2018-01-13 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.
Invitae RCV000542452 SCV000649469 likely benign Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 2020-01-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002276 SCV001160155 uncertain significance not specified 2018-12-26 criteria provided, single submitter clinical testing The WNK1 c.7021G>A; p.Gly2341Ser variant (rs146042595), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 306664). This variant is found in the general population with an overall allele frequency of 0.044% (125/282,838 alleles, including a single homozygote) in the Genome Aggregation Database. The glycine at codon 2341 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Gly2341Ser variant is uncertain at this time.

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