ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.4844_4847del (rs863225175)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201615 SCV000256349 pathogenic Joubert syndrome 9 2015-02-23 criteria provided, single submitter research
Invitae RCV001041543 SCV001205166 uncertain significance Joubert syndrome; Meckel-Gruber syndrome 2019-12-11 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the CC2D2A gene (p.Ser1615Leufs*16). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 6 amino acids of the CC2D2A protein and extend the protein by an additional 9 amino acids. This variant is present in population databases (rs776305976, ExAC 0.005%). This variant has been observed in combination with another CC2D2A variant in an individual affected with Joubert syndrome (PMID: 22241855). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001200280 SCV001371198 pathogenic not provided 2020-06-01 criteria provided, single submitter clinical testing

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