ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.932G>A (p.Arg311Gln) (rs143321447)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000407230 SCV000474744 uncertain significance Familial temporal lobe epilepsy 2 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000523977 SCV000616689 uncertain significance not provided 2017-09-07 criteria provided, single submitter clinical testing The R311Q variant in the CPA6 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R311Q variant is observed in 86/66722 (0.13%) alleles from individuals of non-Finnish European background in the ExAC dataset (Lek et al., 2016). The R311Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. In addition, functional studies looking at rare CPA6 variants demonstrated that cells expressing the R311Q variant had reduced enzymatic activity compared to wild type cells (Sapio et al., 2012). We interpret R311Q as a variant of uncertain significance.
Invitae RCV000523977 SCV000771726 likely benign not provided 2019-01-01 criteria provided, single submitter clinical testing

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