ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.793_797del (p.Glu265fs)

dbSNP: rs1601925213
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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 RCV002234794 SCV000951088 pathogenic Familial focal epilepsy with variable foci 2018-09-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DEPDC5-related disease. Loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu265Metfs*9) in the DEPDC5 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency).
Ambry Genetics RCV002422784 SCV002676993 pathogenic Inborn genetic diseases 2018-12-26 criteria provided, single submitter clinical testing The c.793_797delGAAGA pathogenic mutation, located in coding exon 12 of the DEPDC5 gene, results from a deletion of 5 nucleotides at nucleotide positions 793 to 797, causing a translational frameshift with a predicted alternate stop codon (p.E265Mfs*9). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
GeneDx RCV004723226 SCV005331912 pathogenic not provided 2023-11-06 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23542697, 23542701, 31440721)

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