ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.373T>C (p.Cys125Arg)

gnomAD frequency: 0.00001  dbSNP: rs778986487
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204470 SCV001375677 uncertain significance Familial focal epilepsy with variable foci 2023-09-18 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 935803). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. This variant is present in population databases (rs778986487, gnomAD 0.002%). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 125 of the DEPDC5 protein (p.Cys125Arg).
Mayo Clinic Laboratories, Mayo Clinic RCV001508932 SCV001715372 uncertain significance not provided 2020-07-16 criteria provided, single submitter clinical testing
GeneDx RCV001508932 SCV001986379 uncertain significance not provided 2024-06-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002504236 SCV002814856 uncertain significance Epilepsy, familial focal, with variable foci 1 2022-04-29 criteria provided, single submitter clinical testing

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