ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.1735del (p.Arg579fs) (rs777476179)

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
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415931 SCV000493279 likely pathogenic not provided 2016-08-31 criteria provided, single submitter clinical testing
Counsyl RCV000668033 SCV000792576 likely pathogenic Alstrom syndrome 2017-07-10 criteria provided, single submitter clinical testing
Invitae RCV000668033 SCV000931494 pathogenic Alstrom syndrome 2018-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg579Glyfs*17) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs777476179, ExAC 0.001%). This variant has been observed in an individual affected with Alstrom syndrome (PMID: 24462884). ClinVar contains an entry for this variant (Variation ID: 374506). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as 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.