ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4015C>T (p.Pro1339Ser)

dbSNP: rs781057021
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002020661 SCV002298998 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-08-11 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 1339 of the CC2D2A protein (p.Pro1339Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). 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.

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