ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.746del (p.Ala249fs)

dbSNP: rs2080116669
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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 RCV001044951 SCV001208776 pathogenic not provided 2019-04-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala249Valfs*55) 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.

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