ClinVar Miner

Submissions for variant NM_002495.4(NDUFS4):c.99-1G>A (rs376281345)

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
Integrated Genetics/Laboratory Corporation of America RCV000588112 SCV000697980 pathogenic Leigh syndrome 2016-02-12 criteria provided, single submitter clinical testing Variant summary: The c.99-1G>A variant affects a conserved splice site nucleotide. One in-silico tool predicts damaging outcome for this variant. 5/5 programs in Alamut predict that this variant affects normal splicing, which is confirmed by RT-PCR in patients carrying this variant, showing the variant causes the complete skipping of exon 2. This variant is found in 2/120974 control chromosomes at a frequency of 0.0000165, which does not significantly exceed maximal expected frequency of a pathogenic allele (0.00125). In addition, reputable database classified this variant as pathogenic. Taken together, this variant was classified as pathogenic.
OMIM RCV000007294 SCV000027490 pathogenic Mitochondrial complex I deficiency, nuclear type 1 2003-05-01 no assertion criteria provided literature only

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.