ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.3363C>A (p.Asn1121Lys)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002579733 SCV002931060 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 1121 of the CC2D2A protein (p.Asn1121Lys). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CC2D2A-related conditions. 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 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 RCV002569921 SCV003631929 uncertain significance Inborn genetic diseases 2022-07-05 criteria provided, single submitter clinical testing The c.3363C>A (p.N1121K) alteration is located in exon 27 (coding exon 25) of the CC2D2A gene. This alteration results from a C to A substitution at nucleotide position 3363, causing the asparagine (N) at amino acid position 1121 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004790218 SCV005410528 uncertain significance not provided 2024-05-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005032300 SCV005664544 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-05-27 criteria provided, single submitter clinical testing

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