ClinVar Miner

Submissions for variant NM_013444.4(UBQLN2):c.1319C>T (p.Pro440Leu)

gnomAD frequency: 0.00001  dbSNP: rs763131369
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249676 SCV002516135 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697043 SCV005196885 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP RCV001260915 SCV001232150 likely pathogenic Amyotrophic lateral sclerosis type 15 2020-04-14 no assertion criteria provided clinical testing Arguments in favor of its pathogenicity are: i) two different early-onset probands have been reported with the same variant; ii) the variant is located in a functional domain important for HSP70 interaction; iii) the amino acid is highly conserved; iv) the variant has a low frequency (5 mutated alleles in a total of 183347 alleles). Arguments against the pathogenic effect are: i) the variant was transmitted to both patients by an unaffected mother

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.