ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.5578A>G (p.Ile1860Val) (rs1558650343)

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
Integrated Genetics/Laboratory Corporation of America RCV000735880 SCV000864093 uncertain significance not specified 2017-08-22 criteria provided, single submitter clinical testing Variant summary: The ALMS1 c.5572A>G (p.Ile1858Val, alternative name c.5578A>G) variant involves the alteration of a non-conserved nucleotide and 5/5 in silico tools predict a benign outcome for this variant. However, the predictions have yet to be functionally assessed. This variant is absent in 276700 control chromosomes (gnomAD). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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.