Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649579 | SCV000771408 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2O | 2023-08-07 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with clinical features of a neuromuscular condition (PMID: 31127727). This variant is present in population databases (rs376274132, gnomAD 0.02%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 2255 of the DYNC1H1 protein (p.Asp2255Asn). ClinVar contains an entry for this variant (Variation ID: 539784). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DYNC1H1 protein function. |
Clinical Genetics, |
RCV001700438 | SCV001919955 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001700438 | SCV001953637 | uncertain significance | not provided | no assertion criteria provided | clinical testing |