ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.1218-1G>A

dbSNP: rs2087504321
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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 RCV001971599 SCV002264023 pathogenic Familial focal epilepsy with variable foci 2022-10-28 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change affects an acceptor splice site in intron 17 of the DEPDC5 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with clinical features of autosomal dominant DEPDC5-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1477452). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002352688 SCV002655024 pathogenic Inborn genetic diseases 2019-10-16 criteria provided, single submitter clinical testing The c.1218-1G>A intronic pathogenic mutation results from a G to A substitution one nucleotide upstream from coding exon 17 of the DEPDC5 gene. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.

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