ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11748G>A (p.Glu3916=) (rs373364340)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697874 SCV000721971 likely benign not provided 2021-09-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000603620 SCV000864121 uncertain significance not specified 2017-03-13 criteria provided, single submitter clinical testing Variant summary: The ALMS1 c.11745G>A (alternative name c.11751G>A) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect binding of an ESE site. These predictions have yet to be confirmed by functional studies. This variant was found in 11/120730 control chromosomes from ExAC at a frequency of 0.0000911, which does not exceed the estimated maximal expected allele frequency of a pathogenic ALMS1 variant (0.0022361). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Taken together, this variant is classified as VUS-possibly benign variant.
Invitae RCV000861633 SCV001002005 likely benign Alstrom syndrome 2020-11-18 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000861633 SCV001652843 likely benign Alstrom syndrome 2021-05-18 criteria provided, single submitter clinical testing

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.