ClinVar Miner

Submissions for variant NM_004836.7(EIF2AK3):c.1035dup (p.Lys346Ter)

dbSNP: rs869025178
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV000006232 SCV003841426 pathogenic Wolcott-Rallison dysplasia 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with EIF2AK3 related disorder (ClinVar ID: VCV000005874 / PMID: 10932183). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000006232 SCV000026414 pathogenic Wolcott-Rallison dysplasia 2000-08-01 no assertion criteria provided literature only

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