ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.5605C>A (p.Leu1869Ile) (rs1553404102)

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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000605426 SCV000713812 likely benign not specified 2018-01-08 criteria provided, single submitter clinical testing p.Leu1869Ile in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, 11 have an Isoleucine (Ile) at this position despite high nearby amino aci d conservation. In addition, computational prediction tools do not suggest an im pact to the protein. ACMG/AMP Criteria applied: BP4_Strong.

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.