Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003902752 | SCV004718864 | benign | IER3IP1-related condition | 2021-05-24 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Bioinformatics Core, |
RCV000656061 | SCV000588337 | pathogenic | Childhood epilepsy with centrotemporal spikes | 2017-01-01 | no assertion criteria provided | case-control | CAADphred>15 |
Reproductive Health Research and Development, |
RCV000991184 | SCV001142481 | likely benign | Epilepsy | 2020-01-06 | no assertion criteria provided | curation | NM_016097.4:c.*58T>C in the IER3IP1 gene has an allele frequency of 0.008 in the gnomAD database, including 12 homozygous occurrences. The allele frequency is 0.1321 in the Asian subpopulation (total allele is less than 2000). Benign computational verdict because benign prediction from DANN. Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS2; BP4. |