ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.2123_2124del (p.Glu708fs)

dbSNP: rs2147440462
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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 RCV001900567 SCV002138522 pathogenic not provided 2021-05-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu708Valfs*2) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals with NEXMIF-related conditions. For these reasons, this variant has been classified as Pathogenic.

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