ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.946C>T (p.Arg316Ter)

gnomAD frequency: 0.00001  dbSNP: rs776227815
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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 RCV001993342 SCV002230790 pathogenic not provided 2021-09-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg316*) in the EIF2B5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EIF2B5 are known to be pathogenic (PMID: 11704758, 15060152, 21307862). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with EIF2B5-related conditions. For these reasons, this variant has been classified as Pathogenic.

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