ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.3872T>C (p.Ile1291Thr) (rs370492044)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192749 SCV000246900 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293449 SCV000448064 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348318 SCV000448065 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000192749 SCV000570321 uncertain significance not specified 2016-05-11 criteria provided, single submitter clinical testing The I1291T variant in the CC2D2A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The I1291T variant was not observed at any significant frequency in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The I1291T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret I1291T as a variant of uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000192749 SCV000704026 likely benign not specified 2018-05-04 criteria provided, single submitter clinical testing

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