Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001217050 | SCV001388877 | pathogenic | Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 2022-11-22 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 946228). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys847Argfs*28) in the DIAPH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DIAPH1 are known to be pathogenic (PMID: 24781755, 26463574). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |
| Institute of Human Genetics, |
RCV003492231 | SCV004232655 | pathogenic | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 2024-01-26 | criteria provided, single submitter | clinical testing | This variant has been identified by standard clinical testing. Homozgous in a male patient with developmental disability, epilepsy, microcephaly, optic atrophy, VSD and PFO. Selected ACMG criteria: Pathogenic (I):PM3;PM2;PVS1 |