Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000191115 | SCV000245519 | likely pathogenic | Mitochondrial complex I deficiency | 2013-08-27 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory in trans with a pathogenic variant (c.[166G>A;815-27T>C]) in an 18-year-old male with mitochondrial disease |
Ambry Genetics | RCV000210568 | SCV000262856 | pathogenic | Inborn genetic diseases | 2013-01-30 | criteria provided, single submitter | clinical testing | |
Zeviani Lab, |
RCV000786780 | SCV000924645 | pathogenic | Mitochondrial complex 1 deficiency, nuclear type 21 | 2019-06-26 | criteria provided, single submitter | research | Complex I deficiency. Found as compound heterozygous with c.726C>G (p.Phe242Leu). |
Gene |
RCV000676602 | SCV001821127 | pathogenic | not provided | 2023-06-22 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect, as expression of this variant in E. coli found that it is associated with reduced protein expression and reduced complex I activity and oxidoreductase activity (Maclean et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25356970, 29982452, 30897263, 31787496, 32518176, 26633545) |
Revvity Omics, |
RCV000786780 | SCV002020565 | pathogenic | Mitochondrial complex 1 deficiency, nuclear type 21 | 2021-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000676602 | SCV003442283 | pathogenic | not provided | 2022-07-05 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 104 of the NUBPL protein (p.Leu104Pro). This variant is present in population databases (rs201430951, gnomAD 0.04%). This missense change has been observed in individuals with clinical features of mitochondrial complex I deficiency (PMID: 25356970, 30897263, 31787496, 32518176). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 209179). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects NUBPL function (PMID: 29982452). For these reasons, this variant has been classified as Pathogenic. |
Mayo Clinic Laboratories, |
RCV000676602 | SCV000802390 | uncertain significance | not provided | 2016-03-11 | no assertion criteria provided | clinical testing | |
OMIM | RCV000786780 | SCV001759968 | pathogenic | Mitochondrial complex 1 deficiency, nuclear type 21 | 2021-07-21 | no assertion criteria provided | literature only |