ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.3194A>G (p.Lys1065Arg)

gnomAD frequency: 0.00003  dbSNP: rs757609394
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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 RCV002234768 SCV000949611 uncertain significance Familial focal epilepsy with variable foci 2023-08-17 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with focal epilepsy (PMID: 27173016). ClinVar contains an entry for this variant (Variation ID: 653654). 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. This variant is present in population databases (rs757609394, gnomAD 0.02%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1065 of the DEPDC5 protein (p.Lys1065Arg).
GeneDx RCV001772091 SCV002002329 uncertain significance not provided 2020-01-22 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; Identified in a proband with focal epilepsy but was not present in a similarly affected sibling (Weckhuysen et al., 2016); This variant is associated with the following publications: (PMID: 27173016)

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