Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000728759 | SCV000856372 | uncertain significance | not provided | 2018-08-10 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV003106039 | SCV003780855 | uncertain significance | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2022-04-10 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3 of the CC2D2A protein (p.Pro3Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 593657). 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 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. |
| Ambry Genetics | RCV004601262 | SCV005098321 | uncertain significance | Inborn genetic diseases | 2024-05-26 | criteria provided, single submitter | clinical testing | The c.7C>A (p.P3T) alteration is located in exon 3 (coding exon 1) of the CC2D2A gene. This alteration results from a C to A substitution at nucleotide position 7, causing the proline (P) at amino acid position 3 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005036051 | SCV005660470 | uncertain significance | Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 | 2024-02-11 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV004723140 | SCV005335381 | uncertain significance | CC2D2A-related disorder | 2024-06-21 | no assertion criteria provided | clinical testing | The CC2D2A c.7C>A variant is predicted to result in the amino acid substitution p.Pro3Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.018% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |