Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198207 | SCV000251852 | pathogenic | not provided | 2013-02-14 | criteria provided, single submitter | clinical testing | p.Asp252Gly (GAT>GGT): c.755 A>G in exon 9 of the NDUFS1 gene (NM_005006.5). The D252G missense mutation in the NDUFS1 gene has been reported previously in association with mitochondrial complex I deficiency in two patients who each harbored another mutation in NDUFS1 (Benit et al., 2001; Danhauser et al., 2011). Complementation analysis was shown to restore complex I deficiency in fibroblasts of a patient compound heterozygous for D252G and another NDUFS1 mutation (Danhauser et al., 2011). The variant is found in MITONUC-MITOP panel(s). |
Center for Pediatric Genomic Medicine, |
RCV000198207 | SCV000610000 | pathogenic | not provided | 2017-05-19 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000015299 | SCV000035558 | pathogenic | Mitochondrial complex 1 deficiency, nuclear type 5 | 2001-06-01 | no assertion criteria provided | literature only |