ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.3424G>C (p.Ala1142Pro)

gnomAD frequency: 0.00001  dbSNP: rs1277091809
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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 RCV002023236 SCV002306510 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-03-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1142 of the CC2D2A protein (p.Ala1142Pro). This variant is present in population databases (no rsID available, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with CC2D2A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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