ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.4096C>T (p.Arg1366Trp)

gnomAD frequency: 0.00001  dbSNP: rs1014849515
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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 RCV001205026 SCV001376262 uncertain significance Familial focal epilepsy with variable foci 2024-04-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1366 of the DEPDC5 protein (p.Arg1366Trp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 936262). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV002322008 SCV002628348 uncertain significance Inborn genetic diseases 2018-01-22 criteria provided, single submitter clinical testing The p.R1366W variant (also known as c.4096C>T), located in coding exon 38 of the DEPDC5 gene, results from a C to T substitution at nucleotide position 4096. The arginine at codon 1366 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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