ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.4403G>T (p.Gly1468Val) (rs78102263)

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
GeneDx RCV000520376 SCV000620230 uncertain significance not provided 2018-07-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ALMS1 gene. The G1468V variant has not been published as pathogenic or benign to our knowledge. It has been observed in several other individuals referred for cardiac genetic testing at GeneDx but these individuals harbored additional cardiogenetic variants in other genes. This variant has also been observed in 70/24006 (0.3%) alleles from individuals of African ancestry in large population cohorts (Lek et al., 2016). The G1468V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Nevertheless, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Invitae RCV000230165 SCV000290088 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.