ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.1291G>A (p.Ala431Thr)

dbSNP: rs777844378
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517662 SCV000613076 uncertain significance not specified 2016-10-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000695326 SCV000823818 uncertain significance Familial focal epilepsy with variable foci 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 431 of the DEPDC5 protein (p.Ala431Thr). This variant is present in population databases (rs777844378, gnomAD 0.02%). 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: 447243). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
CeGaT Center for Human Genetics Tuebingen RCV002292559 SCV002585923 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing DEPDC5: BP4
Ambry Genetics RCV002383992 SCV002690881 likely benign Inborn genetic diseases 2018-11-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252467 SCV001428224 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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