ClinVar Miner

Submissions for variant NM_003172.4(SURF1):c.584G>T (p.Gly195Val)

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
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV003110142 SCV003762136 likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1 2023-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331451 SCV004037894 uncertain significance not specified 2023-08-04 criteria provided, single submitter clinical testing Variant summary: SURF1 c.584G>T (p.Gly195Val) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 249776 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.584G>T has been reported in the literature in individuals affected with Leigh Syndrome (Kristol_2023). This report does not provide unequivocal conclusions about association of the variant with Leigh Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 36675121). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as uncertain significance.

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.