Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000485636 | SCV000569090 | uncertain significance | not provided | 2016-01-04 | criteria provided, single submitter | clinical testing | The c.1112delA variant in the CCDC78 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1112delA variant causes a frameshift starting with codon Glutamine 371, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 46 of the new reading frame, denoted p.Gln371ArgfsX46. This variant is predicted to cause loss of normal protein function through protein truncation. The c.1112delA variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1112delA as a variant of uncertain significance. |
| Labcorp Genetics |
RCV001039806 | SCV001203353 | uncertain significance | Congenital myopathy with internal nuclei and atypical cores | 2022-08-26 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs765483630, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Gln371Argfs*46) in the CCDC78 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CCDC78 cause disease. This variant has not been reported in the literature in individuals affected with CCDC78-related conditions. 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. ClinVar contains an entry for this variant (Variation ID: 420305). |