ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.755A>G (p.Asp252Gly)

gnomAD frequency: 0.00001  dbSNP: rs199422224
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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, Children's Mercy Hospital and Clinics 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

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