ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.268G>A (p.Val90Ile)

gnomAD frequency: 0.00001  dbSNP: rs768456731
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001218377 SCV001390257 uncertain significance Familial focal epilepsy with variable foci 2024-01-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 90 of the DEPDC5 protein (p.Val90Ile). This variant is present in population databases (rs768456731, gnomAD 0.003%). This missense change has been observed in individual(s) with Rolandic epilepsy (PMID: 24591017). ClinVar contains an entry for this variant (Variation ID: 264750). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this missense change does not substantially affect DEPDC5 function (PMID: 25366275). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneReviews RCV000254602 SCV000321046 not provided Epilepsy, familial focal, with variable foci 1 no assertion provided literature only
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000656067 SCV000588343 pathogenic Self-limited epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15

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