ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.964C>T (p.Arg322Ter)

dbSNP: rs1556016731
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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

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