Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000705062 | SCV000834042 | uncertain significance | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2024-12-02 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1251 of the CC2D2A protein (p.Gly1251Arg). This variant is present in population databases (rs368180778, gnomAD 0.04%). 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: 581283). Invitae Evidence 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 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 CC2D2A protein function. 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. |
| Eurofins Ntd Llc |
RCV000732007 | SCV000859882 | uncertain significance | not provided | 2018-02-22 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002493242 | SCV002780144 | uncertain significance | Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 | 2024-01-03 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002534428 | SCV003735197 | uncertain significance | Inborn genetic diseases | 2023-10-25 | criteria provided, single submitter | clinical testing | The c.3751G>A (p.G1251R) alteration is located in exon 30 (coding exon 28) of the CC2D2A gene. This alteration results from a G to A substitution at nucleotide position 3751, causing the glycine (G) at amino acid position 1251 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Prevention |
RCV004733011 | SCV005365773 | uncertain significance | CC2D2A-related disorder | 2024-08-22 | no assertion criteria provided | clinical testing | The CC2D2A c.3751G>A variant is predicted to result in the amino acid substitution p.Gly1251Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.042% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |