Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522617 | SCV000620065 | uncertain significance | not provided | 2017-08-14 | criteria provided, single submitter | clinical testing | The M1666V variant in the COL4A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The M1666V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The M1666V variant is a conservative amino acid substitution, which occurs at a position in the collagen IV NC1 domain that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret M1666V as a variant of uncertain significance. |
Invitae | RCV000522617 | SCV004454547 | uncertain significance | not provided | 2023-09-30 | criteria provided, single submitter | clinical testing | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 451373). This variant has not been reported in the literature in individuals affected with COL4A1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1666 of the COL4A1 protein (p.Met1666Val). |