ClinVar Miner

Submissions for variant NM_004836.7(EIF2AK3):c.1564_1565del (p.Trp522fs)

dbSNP: rs797045558
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193530 SCV000247287 pathogenic Wolcott-Rallison dysplasia 2014-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517071 SCV003324970 pathogenic not provided 2022-03-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 210932). This variant has not been reported in the literature in individuals affected with EIF2AK3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp522Glufs*34) 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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