ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.1525C>T (p.Arg509Cys) (rs202083639)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479497 SCV000569260 uncertain significance not provided 2018-04-24 criteria provided, single submitter clinical testing The R509C variant in the DEPDC5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R509C variant was not observed with any significant frequency in approximately 6300 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 R509C 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 predicts this variant is probably damaging to the protein structure/function.We interpret R509C as a variant of uncertain significance
Invitae RCV001079690 SCV000642159 likely benign Familial focal epilepsy with variable foci 2019-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717398 SCV000848248 likely benign Seizures 2019-04-25 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);Subpopulation frequency in support of benign classification
Fulgent Genetics,Fulgent Genetics RCV000526279 SCV000896958 uncertain significance Epilepsy, familial focal, with variable foci 1 2018-10-31 criteria provided, single submitter clinical testing

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