Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000229372 | SCV000282083 | pathogenic | not provided | 2022-02-18 | 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: 27568816) |
Ce |
RCV000229372 | SCV001247749 | pathogenic | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | NEXMIF: PS2, PVS1:Strong, PM2, PS4:Moderate |
Invitae | RCV000229372 | SCV001585129 | pathogenic | not provided | 2023-11-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg313*) in the NEXMIF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NEXMIF are known to be pathogenic (PMID: 23615299). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with intellectual disability and seizures (PMID: 27568816, 34580403). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 242327). For these reasons, this variant has been classified as Pathogenic. |
Pediatric Genetics Clinic, |
RCV000813595 | SCV001712202 | pathogenic | X-linked intellectual disability, Cantagrel type | 2021-05-13 | no assertion criteria provided | clinical testing |