Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
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). |