ClinVar Miner

Submissions for variant NM_001959.4(EEF1B2):c.383C>A (p.Ser128Ter)

dbSNP: rs1576016842
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris RCV000850165 SCV000930622 pathogenic Seizure; Intellectual disability; Moderate global developmental delay 2019-08-05 criteria provided, single submitter clinical testing A first LoF variant was reported in one family with autosomal recessive intellectual disabilities (Najmabadi et al, 2011). The NM_001959.3:c.383C>A, NP_001950.1:p.(Ser128*) variant segregates in the sibship, and is absent in general population alleles in gnomAD ascertained by July 2019. It is a LoF variant in a gene where another LoF variant has been supposed to induce similar symptoms. Moreover, there are multiple lines of computational evidence that support a deleterious effect on the gene or gene product.

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