ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.354_355dup (p.Glu119fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003018040 SCV003304652 pathogenic not provided 2022-01-19 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with NEXMIF-related conditions. This sequence change creates a premature translational stop signal (p.Glu119Valfs*8) 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).

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