ClinVar Miner

Submissions for variant NM_003172.4(SURF1):c.1A>T (p.Met1Leu)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV003620271 SCV004533770 pathogenic Leigh syndrome 2023-09-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SURF1-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SURF1 protein in which other variant(s) (p.Leu90Pro) have been determined to be pathogenic (PMID: 19780766, 22488715, 29933018, 32445240). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the SURF1 mRNA. The next in-frame methionine is located at codon 110.

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.