ClinVar Miner

Submissions for variant NM_007375.4(TARDBP):c.1133A>G (p.Asn378Ser)

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
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University RCV003226896 SCV003922070 likely pathogenic Amyotrophic lateral sclerosis type 10 criteria provided, single submitter clinical testing In Huang et al., 2012 this mutation was reported as heterozygous in a sporadic ALS patient and absent in 400 healthy controls. The complaints and age of disease onset were similar to our case. It was suggested that the mutation has low penetrance since the patient appeared sporadic. In our case, the disease progressed very rapidly after the age onset, which may stem from the homozygous dosage of the variant.

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.