Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001560826 | SCV001783312 | pathogenic | not provided | 2021-10-27 | 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 at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25900396, 27812264, 26576034, 27358180) |
Invitae | RCV001560826 | SCV003445259 | pathogenic | not provided | 2023-06-03 | 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: 438478). This premature translational stop signal has been observed in individual(s) with clinical features of NEXMIF-related conditions (PMID: 25900396, 26576034). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg322*) 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). |
OMIM | RCV000505427 | SCV000599599 | pathogenic | X-linked intellectual disability, Cantagrel type | 2021-08-20 | no assertion criteria provided | literature only |