ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.1684C>T (p.Gln562Ter)

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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 RCV003555117 SCV004293551 pathogenic not provided 2023-06-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with EIF2B5-related conditions (PMID: 27159321). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln562*) 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).

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