ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.694+5G>A

dbSNP: rs1060501485
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002230342 SCV000546501 uncertain significance Familial focal epilepsy with variable foci 2016-06-24 criteria provided, single submitter clinical testing In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DEPDC5-related disease. This sequence change falls in intron 11 of the DEPDC5 mRNA. It does not directly change the encoded amino acid sequence of the DEPDC5 protein, but it affects a nucleotide within the consensus splice site of the intron.

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