ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.170C>A (p.Ser57Tyr)

dbSNP: rs2148027642
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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 RCV001975722 SCV002248331 uncertain significance Familial focal epilepsy with variable foci 2021-07-05 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 C15"). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with tyrosine at codon 57 of the DEPDC5 protein (p.Ser57Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine.
GeneDx RCV004774574 SCV005384092 uncertain significance not provided 2023-12-25 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

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