ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.3643A>C (p.Ser1215Arg)

dbSNP: rs765661601
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001346545 SCV001540755 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2020-08-31 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with arginine at codon 1215 of the CC2D2A protein (p.Ser1215Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. This variant has not been reported in the literature in individuals with CC2D2A-related conditions. 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. 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.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989687 SCV004806057 uncertain significance Joubert syndrome 9 2024-03-25 criteria provided, single submitter clinical testing

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