ClinVar Miner

Submissions for variant NM_004836.7(EIF2AK3):c.2476C>T (p.Arg826Ter)

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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 RCV005198159 SCV005834322 pathogenic not provided 2024-02-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg826*) 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 present in population databases (rs755001234, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with EIF2AK3-related conditions (PMID: 28843469). For these reasons, this variant has been classified as Pathogenic.

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