ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.617dup (p.Phe207fs)

dbSNP: rs2080117124
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001064843 SCV001229770 pathogenic not provided 2019-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe207Leufs*5) in the NEXMIF gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NEXMIF-related conditions. Loss-of-function variants in NEXMIF are known to be pathogenic (PMID: 23615299). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001064843 SCV001773321 pathogenic not provided 2022-10-31 criteria provided, single submitter clinical testing Frameshift 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 (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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