ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.857T>C (p.Leu286Pro)

gnomAD frequency: 0.00001  dbSNP: rs776020343
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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 RCV001978933 SCV002218770 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 286 of the CC2D2A protein (p.Leu286Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs776020343, ExAC 0.001%). 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.
Fulgent Genetics, Fulgent Genetics RCV005023497 SCV005660508 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-06-05 criteria provided, single submitter clinical testing

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