Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Kids Neuroscience Centre, |
RCV000985180 | SCV001571511 | uncertain significance | Mitochondrial complex 1 deficiency, nuclear type 4 | criteria provided, single submitter | clinical testing | Previously reported in ClinVar (VCV000800963). No evidence for splicing abnormalities induced by the c.1312C>A variant. | |
Invitae | RCV001858613 | SCV002178493 | uncertain significance | not provided | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 438 of the NDUFV1 protein (p.Leu438Met). This variant is present in population databases (rs1127511, gnomAD 0.08%). This missense change has been observed in individual(s) with mitochondrial complex I deficiency (PMID: 28454995). ClinVar contains an entry for this variant (Variation ID: 800963). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NDUFV1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV000985180 | SCV002799598 | uncertain significance | Mitochondrial complex 1 deficiency, nuclear type 4 | 2022-03-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002549636 | SCV003745547 | uncertain significance | Inborn genetic diseases | 2021-10-15 | criteria provided, single submitter | clinical testing | (Alfares, 2017) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000985180 | SCV003813542 | uncertain significance | Mitochondrial complex 1 deficiency, nuclear type 4 | 2021-09-08 | criteria provided, single submitter | clinical testing | |
Biochemical Molecular Genetic Laboratory, |
RCV000985180 | SCV001133195 | likely pathogenic | Mitochondrial complex 1 deficiency, nuclear type 4 | 2019-09-26 | no assertion criteria provided | clinical testing |