ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.233G>C (p.Arg78Pro)

gnomAD frequency: 0.00008  dbSNP: rs373578854
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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 RCV000642489 SCV000764172 uncertain significance Familial focal epilepsy with variable foci 2024-10-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 78 of the DEPDC5 protein (p.Arg78Pro). This variant is present in population databases (rs373578854, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 534797). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV002449018 SCV002732382 likely benign Inborn genetic diseases 2019-02-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV004719913 SCV005325660 uncertain significance not provided 2024-01-29 criteria provided, single submitter clinical testing Reported as a germline variant in a resected brain sample from at least one patient with focal cortical dysplasia and epilepsy in published literature (PMID: 36226386); Reported in a patient with language impairment who also harbored variants in several other genes (PMID: 28440294); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 36226386, 28440294)

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