ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3815_3817del (p.Val1272del)

dbSNP: rs954466797
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674835 SCV000800236 uncertain significance Alstrom syndrome 2018-05-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352097 SCV002623446 uncertain significance Cardiovascular phenotype 2022-04-07 criteria provided, single submitter clinical testing The c.3818_3820delTTG variant (also known as p.V1273del) is located in coding exon 8 of the ALMS1 gene. This variant results from an in-frame TTG deletion at nucleotide positions 3818 to 3820. This results in the in-frame deletion of a valine residue at codon 1273. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.