ClinVar Miner

Submissions for variant NM_004553.6(NDUFS6):c.309+5G>A

gnomAD frequency: 0.00001  dbSNP: rs763535523
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV001263153 SCV001441235 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 9 2020-09-30 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001380752 SCV001578909 pathogenic not provided 2024-01-04 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the NDUFS6 gene. It does not directly change the encoded amino acid sequence of the NDUFS6 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs763535523, gnomAD 0.006%). This variant has been observed in individual(s) with clinical features of mitochondrial complex I deficiency (PMID: 28429146, 30948790; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 983268). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
MGZ Medical Genetics Center RCV001263153 SCV002579834 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 9 2021-12-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001263153 SCV002810546 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 9 2021-10-22 criteria provided, single submitter clinical testing
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) RCV001263153 SCV003920784 pathogenic Mitochondrial complex 1 deficiency, nuclear type 9 2023-04-27 criteria provided, single submitter research
Baylor Genetics RCV001263153 SCV004197776 pathogenic Mitochondrial complex 1 deficiency, nuclear type 9 2024-02-27 criteria provided, single submitter clinical testing

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.