ClinVar Miner

Submissions for variant NM_017775.4(TTC19):c.906G>A (p.Met302Ile)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV002928121 SCV003262507 likely benign not provided 2022-10-07 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003340563 SCV004047248 uncertain significance Mitochondrial complex III deficiency nuclear type 2 criteria provided, single submitter clinical testing The missense variant in c.906G>A (p.Met302Ile) in TTC19 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with allele frequency of 0.02% in gnomAD database. The amino acid Met at position 302 is changed to a Ile changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Met302Ile in TTC19 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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.