ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.1871C>T (p.Pro624Leu)

gnomAD frequency: 0.00001  dbSNP: rs947493633
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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 RCV001950274 SCV002221771 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-06-20 criteria provided, single submitter clinical testing 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 not expected to disrupt CC2D2A protein function. This variant has not been reported in the literature in individuals affected with CC2D2A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 624 of the CC2D2A protein (p.Pro624Leu).
Fulgent Genetics, Fulgent Genetics RCV005023493 SCV005660566 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-01-20 criteria provided, single submitter clinical testing

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