ClinVar Miner

Submissions for variant NM_017415.3(KLHL3):c.471A>G (p.Ala157=)

gnomAD frequency: 0.78307  dbSNP: rs2905608
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246490 SCV000312802 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000402327 SCV000452935 benign Autosomal dominant pseudohypoaldosteronism type 1 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000246490 SCV000711916 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Ala157Ala in exon 5 of KLHL3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 99.06% (8557/8638) o f East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs2905608).
Illumina Laboratory Services, Illumina RCV001155063 SCV001316466 benign Pseudohypoaldosteronism type 2D 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.
GeneDx RCV001722331 SCV001946798 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001155063 SCV001981132 benign Pseudohypoaldosteronism type 2D 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001722331 SCV002426135 benign not provided 2025-02-03 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.