ClinVar Miner

Submissions for variant NM_004836.7(EIF2AK3):c.1474C>T (p.Arg492Ter)

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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 RCV003554945 SCV004292622 pathogenic not provided 2024-08-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg492*) in the EIF2AK3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EIF2AK3 are known to be pathogenic (PMID: 11997520). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Wolcott-Rallison syndrome (PMID: 22672868). This variant is also known as c.1471C>T (p.Arg491X). For these reasons, this variant has been classified as Pathogenic.

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