Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000479727 | SCV000570525 | uncertain significance | not provided | 2023-05-12 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published in a patient with a CC2D2A-related ciliopathy to our knowledge; This variant is associated with the following publications: (PMID: 28719003, 26740555) |
Invitae | RCV001053315 | SCV001217573 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496867 | SCV002814898 | uncertain significance | Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 | 2022-05-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002525868 | SCV003704964 | uncertain significance | Inborn genetic diseases | 2022-08-01 | criteria provided, single submitter | clinical testing | The c.4729G>A (p.A1577T) alteration is located in exon 38 (coding exon 36) of the CC2D2A gene. This alteration results from a G to A substitution at nucleotide position 4729, causing the alanine (A) at amino acid position 1577 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000479727 | SCV003829312 | uncertain significance | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004541523 | SCV004766459 | uncertain significance | CC2D2A-related disorder | 2024-01-25 | criteria provided, single submitter | clinical testing | The CC2D2A c.4729G>A variant is predicted to result in the amino acid substitution p.Ala1577Thr. To our knowledge, this variant has not been reported in the literature. Pathogenic variants in CC2D2A are associated with autosomal recessive Joubert syndrome (OMIM: #612285), Meckel syndrome (OMIM: #612284), and COACH syndrome (OMIM: #216360). This variant is reported in 0.14% 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. |