ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.937C>T (p.Arg313Ter)

dbSNP: rs878854425
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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)
CeGaT Center for Human Genetics Tuebingen 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, Sheba Medical Center RCV000813595 SCV001712202 pathogenic X-linked intellectual disability, Cantagrel type 2021-05-13 no assertion criteria provided clinical testing

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