ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.847G>C (p.Val283Leu)

dbSNP: rs1569523754
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001317346 SCV001508004 uncertain significance Familial focal epilepsy with variable foci 2023-05-20 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. This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 283 of the DEPDC5 protein (p.Val283Leu). This variant is not present in population databases (gnomAD no frequency). 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: 1018094).
GeneDx RCV002284481 SCV002574226 uncertain significance not provided 2022-03-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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