Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001366049 | SCV001562337 | uncertain significance | Congenital myopathy with internal nuclei and atypical cores | 2023-05-10 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 210 of the CCDC78 protein (p.Thr210Ser). This variant is present in population databases (rs375138705, gnomAD 0.006%). 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 CCDC78 protein function. ClinVar contains an entry for this variant (Variation ID: 1057125). This variant has not been reported in the literature in individuals affected with CCDC78-related conditions. |