Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001217312 | SCV001389146 | uncertain significance | Familial focal epilepsy with variable foci | 2023-10-26 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 167 of the DEPDC5 protein (p.Thr167Met). This variant is present in population databases (rs575683658, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of familial focal epilepsy with variable foci (Invitae). ClinVar contains an entry for this variant (Variation ID: 946444). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
Gene |
RCV001569061 | SCV001793048 | uncertain significance | not provided | 2023-06-30 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002491674 | SCV002800200 | uncertain significance | Epilepsy, familial focal, with variable foci 1 | 2021-09-09 | criteria provided, single submitter | clinical testing |