ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.3368G>A (p.Ser1123Asn)

gnomAD frequency: 0.00015  dbSNP: rs377404804
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592034 SCV000702613 uncertain significance not provided 2017-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001360422 SCV001556338 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 1123 of the CC2D2A protein (p.Ser1123Asn). This variant is present in population databases (rs377404804, gnomAD 0.05%). This missense change has been observed in individual(s) with retinitis pigmentosa (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 497876). 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.
GeneDx RCV000592034 SCV003806072 uncertain significance not provided 2023-02-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004024720 SCV004920451 uncertain significance Inborn genetic diseases 2023-09-20 criteria provided, single submitter clinical testing The c.3368G>A (p.S1123N) alteration is located in exon 27 (coding exon 25) of the CC2D2A gene. This alteration results from a G to A substitution at nucleotide position 3368, causing the serine (S) at amino acid position 1123 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000592034 SCV005410529 uncertain significance not provided 2024-08-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005034160 SCV005664545 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-03-23 criteria provided, single submitter clinical testing

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