ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr)

gnomAD frequency: 0.00039  dbSNP: rs199695154
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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, 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, Revvity RCV000479727 SCV003829312 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences 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.

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