ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.1223G>A (p.Arg408His)

gnomAD frequency: 0.00001  dbSNP: rs151279101
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497455 SCV000590101 likely pathogenic not provided 2019-02-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31589614)
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001249843 SCV001423861 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 5 criteria provided, single submitter research The NDUFS1 p.A408H variant has not been previously seen in patients, but a variant in the same codon, c.1222C>T p.A408C, has been reported in the homozygous state in two brothers with complex I deficiency (PMID: 20382551) and two sisters with Leigh syndrome (PMID: 20819849).

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