Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000314302 | SCV000330786 | pathogenic | not provided | 2017-10-26 | criteria provided, single submitter | clinical testing | The R348X pathogenic variant in the KIAA2022 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R348X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R348X as a pathogenic variant. |
Invitae | RCV000314302 | SCV001207274 | pathogenic | not provided | 2022-10-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 280835). This variant has not been reported in the literature in individuals affected with NEXMIF-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg348*) 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). |
Molecular Genetics Laboratory, |
RCV000767534 | SCV000898152 | pathogenic | X-linked intellectual disability, Cantagrel type | 2018-06-28 | no assertion criteria provided | clinical testing |