ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.842A>T (p.Tyr281Phe) (rs200797928)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718618 SCV000849482 uncertain significance Seizures 2017-04-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Insufficient evidence
GeneDx RCV000486977 SCV000569491 uncertain significance not provided 2018-10-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DEPDC5 gene. The Y281F variant has been reported previously in a child with infantile spasms, speech delay, hemiparesis, and focal cortical dysplasia, in addition to the child's father with unclassified epilepsy and sister with multifocal epilepsy; however, functional studies were not performed (Carvill et al., 2015). The Y281F variant is observed in 3/24008 (0.01%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The Y281F 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
GeneReviews RCV000254604 SCV000321049 uncertain significance Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only

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