ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.1813del (p.Leu605fs)

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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 RCV003555118 SCV004293553 pathogenic not provided 2023-04-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This premature translational stop signal has been observed in individual(s) with leukoencephalopathy with vanishing white matter (PMID: 15670229). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu605Cysfs*21) 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).
Fulgent Genetics, Fulgent Genetics RCV005030112 SCV005661997 pathogenic Leukoencephalopathy with vanishing white matter 5 2024-05-13 criteria provided, single submitter clinical testing

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