Submissions for variant NM_001242896.3(DEPDC5):c.562+6G>A

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003760592	SCV004552582	uncertain significance	Familial focal epilepsy with variable foci	2023-10-24	criteria provided, single submitter	clinical testing	This sequence change falls in intron 9 of the DEPDC5 gene. It does not directly change the encoded amino acid sequence of the DEPDC5 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs761983277, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
GeneDx	RCV004784174	SCV005396668	uncertain significance	not provided	2024-04-29	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.