ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.2624C>T (p.Ser875Leu) (rs200904521)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000732739 SCV000582683 uncertain significance not provided 2017-05-12 criteria provided, single submitter clinical testing The S875L variant in the CC2D2A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S875L variant is observed in 1/6614 (0.015%) alleles from individuals of European (Finnish) background and in 6/66420 (0.009%) alleles from individuals of European (non-Finnish) background in the ExAC dataset, with no individuals reported to be homozygous (Lek et al., 2016). The S875L 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 S875L as a variant of uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732739 SCV000860723 uncertain significance not provided 2018-04-09 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765758 SCV000897146 uncertain significance COACH syndrome; Meckel syndrome type 6; Joubert syndrome 9 2018-10-31 criteria provided, single submitter clinical testing

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