ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1831del (p.Ala611fs)

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
Neuberg Centre For Genomic Medicine, NCGM RCV004720667 SCV005329491 likely pathogenic Tuberous sclerosis 1 2023-05-20 criteria provided, single submitter clinical testing The observed frameshift c.1831del(p.Ala611HisfsTer18) variant in TSC1 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Ala611HisfsTer18 variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. This variant causes a frameshift starting with codon Alanine 611, changes this amino acid to Histidine residue, and creates a premature Stop codon at position 18 of the new reading frame, denoted p.Ala611HisfsTer18. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely 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.