ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.161A>C (p.Gln54Pro) (rs201312113)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000711430 SCV000564932 uncertain significance not provided 2016-02-05 criteria provided, single submitter clinical testing The Q54P variant in the DEPDC5 gene has not been reported in one individual with temporal lobe epilepsy and intellectual disability; however this variant was also observed in this patient's apparently unaffected mother (Ricos et al., 2016). The Q54P variant was not observed in approximately 5,900 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 Q54P 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 conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, based on the currently information available, we continue to interpret Q54P as a variant of unknown significance.
Invitae RCV001085197 SCV000642161 benign Familial focal epilepsy with variable foci 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711430 SCV000841795 benign not provided 2018-04-27 criteria provided, single submitter clinical testing
GeneReviews RCV000254580 SCV000321045 uncertain significance Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only

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