ClinVar Miner

Submissions for variant NM_004836.7(EIF2AK3):c.2921del (p.Pro974fs)

dbSNP: rs1674291042
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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 RCV003550720 SCV004268207 pathogenic not provided 2023-06-14 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EIF2AK3-related conditions. For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Pro974Glnfs*12) 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).

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