ClinVar Miner

Submissions for variant NM_004836.7(EIF2AK3):c.1912C>T (p.Arg638Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003460018 SCV004194587 pathogenic Wolcott-Rallison dysplasia 2023-10-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003553950 SCV004292620 pathogenic not provided 2023-03-27 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 diabetes mellitus (PMID: 31638168). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg638*) 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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