ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.1165C>T (p.Arg389Cys)

gnomAD frequency: 0.01988  dbSNP: rs41311139
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233749 SCV000286363 benign Familial focal epilepsy with variable foci 2025-02-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000249632 SCV000307086 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711427 SCV000841792 benign not provided 2018-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311340 SCV000846528 benign Inborn genetic diseases 2016-03-14 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV000711427 SCV001884261 benign not provided 2019-07-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711427 SCV005275462 benign not provided criteria provided, single submitter not provided

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