ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.880C>T (p.Pro294Ser)

dbSNP: rs2086522074
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335779 SCV001529013 uncertain significance Epilepsy, familial focal, with variable foci 1 2018-08-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001871877 SCV002139034 uncertain significance Familial focal epilepsy with variable foci 2022-07-26 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C65"). ClinVar contains an entry for this variant (Variation ID: 1033381). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 294 of the DEPDC5 protein (p.Pro294Ser).

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