ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.722C>T (p.Ser241Leu)

gnomAD frequency: 0.00001  dbSNP: rs1397187284
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752324 SCV001988403 uncertain significance not provided 2019-01-17 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001882846 SCV002293081 uncertain significance Familial focal epilepsy with variable foci 2025-01-05 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 241 of the DEPDC5 protein (p.Ser241Leu). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 1304557). 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.
Fulgent Genetics, Fulgent Genetics RCV002503195 SCV002812070 uncertain significance Epilepsy, familial focal, with variable foci 1 2021-07-06 criteria provided, single submitter clinical testing

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