ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.647C>T (p.Ala216Val) (rs768733110)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000998222 SCV001154175 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing
Invitae RCV001039863 SCV001203412 uncertain significance Joubert syndrome; Meckel-Gruber syndrome 2019-12-26 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 216 of the CC2D2A protein (p.Ala216Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs768733110, ExAC 0.2%). This variant has not been reported in the literature in individuals 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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