ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.3155A>G (p.Lys1052Arg)

gnomAD frequency: 0.00058  dbSNP: rs200277794
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000527007 SCV000642185 likely benign Familial focal epilepsy with variable foci 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV001683569 SCV001897575 benign not provided 2019-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323977 SCV002610145 likely benign Inborn genetic diseases 2022-04-13 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.

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