Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003809651 | SCV004596349 | pathogenic | Marshall-Smith syndrome; Malan overgrowth syndrome | 2023-06-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with NFIX-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile180Lysfs*38) in the NFIX gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NFIX are known to be pathogenic (PMID: 20673863, 20949508, 24924640, 25118028). |