ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.3735G>A (p.Lys1245=) (rs140670994)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180330 SCV000232742 likely benign not specified 2015-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000180330 SCV000534132 likely benign not specified 2018-02-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000180330 SCV000864090 benign not specified 2016-11-28 criteria provided, single submitter clinical testing Variant summary: The c.3729G>A (alternative name c.3735G>A) in ALMS1 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect a normal splicing, however no functional studies supporting these predictions were published at the time of evaluation. The variant is present in the large control population dataset of ExAC at a frequency 0.0004 (48/120640 chrs tested), predominantly in individuals of African origin (0.0045; 44/9792 chrs tested). This frequency exceeds the estimated maximal expected allele frequency of a pathogenic variant in ALMS1 gene (0.0022). The variant is present in a control population dataset of gmomAD predominantly in individuals of African origin: 0.0045 (117/ 25854 chrs); however, since the data set is still in beta mode, this data was not captured in pbGP. The c. 3729G>A has not, to our knowledge, been reported in affected individuals via published reports, but is cited as Likely Benign by a reputable database/clinical laboratory. The variant seems to be an ethnic specific polymorphism, therefore it has been classified as Benign.
Invitae RCV000559280 SCV000631778 likely benign Alstrom syndrome 2017-09-05 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.