Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000732432 | SCV000860392 | pathogenic | not provided | 2018-03-20 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV003768221 | SCV004597176 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2024-07-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile556*) in the CC2D2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CC2D2A are known to be pathogenic (PMID: 19777577). This variant is present in population databases (rs773740057, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CC2D2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 596555). For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004768620 | SCV005381001 | pathogenic | Meckel syndrome, type 6 | 2024-08-15 | criteria provided, single submitter | clinical testing | Variant summary: CC2D2A c.1666delA (p.Ile556X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4e-06 in 248942 control chromosomes. To our knowledge, no occurrence of c.1666delA in individuals affected with Meckel Syndrome Type 6 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 596555). Based on the evidence outlined above, the variant was classified as pathogenic. |
| Prevention |
RCV004733036 | SCV005344060 | pathogenic | CC2D2A-related disorder | 2024-03-16 | no assertion criteria provided | clinical testing | The CC2D2A c.1666delA variant is predicted to result in premature protein termination (p.Ile556*). This variant has been identified in a carrier screen for autosomal recessive genetic conditions and interpreted as pathogenic (Table S1 Capalbo et al. 2019. PubMed ID: 31589614). To our knowledge this variant has not been reported in individuals with Joubert or Meckel-Gruber syndrome. This variant is reported in 0.00089% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Truncating variants in CC2D2A are expected to be pathogenic. This variant is interpreted as pathogenic. |