ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.2117G>A (p.Arg706Gln) (rs778205727)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726483 SCV000344991 uncertain significance not provided 2018-07-16 criteria provided, single submitter clinical testing
GeneDx RCV000726483 SCV000574081 uncertain significance not provided 2017-03-16 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CC2D2A gene. The R706Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R706Q variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R706Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, 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. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000636970 SCV000758418 benign Joubert syndrome; Meckel-Gruber syndrome 2017-12-29 criteria provided, single submitter clinical testing

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