Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001091613 | SCV001247750 | likely pathogenic | not provided | 2019-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001091613 | SCV003315290 | pathogenic | not provided | 2022-02-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 871572). This premature translational stop signal has been observed in individual(s) with intellectual disability syndrome (PMID: 33144681). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln232*) 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). |