ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs) (rs868776324)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001251283 SCV001426815 likely pathogenic Alstrom syndrome 2020-07-22 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.3715_3718delTCAC (p.Ser1239ThrfsX23) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic (in ClinVar and in HGMD). The variant was absent in 249040 control chromosomes (gnomAD). To our knowledge, no occurrence of c.3715_3718delTCAC in individuals affected with Alstrom Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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.