Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000557813 | SCV000651681 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2O | 2023-01-26 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs377668381, gnomAD 0.02%). 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 expected to disrupt DYNC1H1 protein function. ClinVar contains an entry for this variant (Variation ID: 472564). This missense change has been observed in individual(s) with hereditary motor neuropathy (PMID: 26392352). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 3065 of the DYNC1H1 protein (p.Val3065Met). |
Fulgent Genetics, |
RCV000763905 | SCV000894846 | uncertain significance | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 | 2018-10-31 | criteria provided, single submitter | clinical testing |