Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001090432 | SCV001245976 | uncertain significance | not provided | 2020-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001090432 | SCV003921575 | uncertain significance | not provided | 2022-10-28 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30840888) |
Invitae | RCV001090432 | SCV004535372 | uncertain significance | not provided | 2023-07-28 | 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. 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 not expected to disrupt COL4A1 protein function. This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 113 of the COL4A1 protein (p.Gln113Arg). This variant is present in population databases (rs779129339, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with COL4A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 870805). |