Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000711543 | SCV000841921 | uncertain significance | not provided | 2017-12-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001861964 | SCV002302363 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2O | 2021-08-30 | 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. 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 DYNC1H1 protein function. ClinVar contains an entry for this variant (Variation ID: 585814). This variant has not been reported in the literature in individuals affected with DYNC1H1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with serine at codon 2985 of the DYNC1H1 protein (p.Cys2985Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. |
Gene |
RCV000711543 | SCV002578855 | uncertain significance | not provided | 2022-04-06 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26100331, 25609763, 25512093) |