Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Groupe Hospitalier Pitie Salpetriere, |
RCV000496205 | SCV000586750 | pathogenic | Developmental and epileptic encephalopathy, 8 | 2017-01-06 | criteria provided, single submitter | clinical testing | Intellectual Disability; relative macrocephaly |
Gene |
RCV000627195 | SCV000748179 | pathogenic | not provided | 2023-02-13 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26633542, 31440721, 34851771, 33600053, 28708303) |
Invitae | RCV000496205 | SCV000823964 | pathogenic | Developmental and epileptic encephalopathy, 8 | 2022-06-09 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change creates a premature translational stop signal (p.Arg289*) in the ARHGEF9 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARHGEF9 are known to be pathogenic (PMID: 25678704, 26834553, 28589176). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with early infantile epileptic encephalopathy (PMID: 28708303). ClinVar contains an entry for this variant (Variation ID: 431121). For these reasons, this variant has been classified as Pathogenic. |
Genomic Medicine Lab, |
RCV002286412 | SCV002576343 | pathogenic | Global developmental delay | criteria provided, single submitter | clinical testing | ||
Revvity Omics, |
RCV000496205 | SCV003815600 | pathogenic | Developmental and epileptic encephalopathy, 8 | 2022-05-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000627195 | SCV003917798 | pathogenic | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | ARHGEF9: PVS1, PS2, PM2 |