ClinVar Miner

Submissions for variant NM_152778.3(MFSD8):c.233G>A (p.Trp78Ter) (rs1578912362)

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
Invitae RCV000794452 SCV000933862 pathogenic Neuronal ceroid lipofuscinosis 7 2018-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp78*) in the MFSD8 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with retinal dystrophy, however the second variant identified in this family (p.Glu336Gln) is classified as Benign. Therefore it is unclear if this gene was the cause of disease in this family (PMID: 28586915). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in MFSD8 are known to be pathogenic (PMID: 19177532, 25227500, 28586915). For these reasons, this variant has been classified as Pathogenic.

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.