ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.389T>A (p.Ile130Asn)

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 RCV003389387 SCV004101551 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 5 criteria provided, single submitter clinical testing The missense variant p.I130N in NDUFS1 (NM_005006.7) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.I130N variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a large physicochemical difference between isoleucine and asparagine, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. The p.I130N missense variant is predicted to be damaging by both SIFT and PolyPhen2. The isoleucine residue at codon 130 of NDUFS1 is conserved in all mammalian species. The nucleotide c.389 in NDUFS1 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance. The observed variant was also detected in the spouse.

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.