ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.11395_11396AG[1] (p.Arg3799fs) (rs1553418598)

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
GeneDx RCV000520392 SCV000619729 pathogenic not provided 2017-10-24 criteria provided, single submitter clinical testing The c.11397_11398delAG variant in the ALMS1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.11397_11398delAG variant causes a frameshift starting with codon Arginine 3799, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Arg3799SerfsX9. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.11397_11398delAG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.11397_11398delAG as a pathogenic variant.

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.