ClinVar Miner

Submissions for variant NM_001034116.2(EIF2B4):c.1120C>T (p.Arg374Cys)

gnomAD frequency: 0.00007  dbSNP: rs113994035
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001650827 SCV001871269 uncertain significance not provided 2021-07-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 11835386, 29331873, 27535533, 32962729, 15776425)
Labcorp Genetics (formerly Invitae), Labcorp RCV001650827 SCV002286340 pathogenic not provided 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 373 of the EIF2B4 protein (p.Arg373Cys). This variant is present in population databases (rs113994035, gnomAD 0.03%). This missense change has been observed in individuals with EIF2B4-related conditions (PMID: 11835386, 15054402, 15776425, 18263758, 25089094, 29331873). This variant is also known as R374C. ClinVar contains an entry for this variant (Variation ID: 4118). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant disrupts the p.Arg373 amino acid residue in EIF2B4. Other variant(s) that disrupt this residue have been observed in individuals with EIF2B4-related conditions (PMID: 33432707), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV003221394 SCV005655964 likely pathogenic Leukoencephalopathy with vanishing white matter 4 2024-01-27 criteria provided, single submitter clinical testing
OMIM RCV003221394 SCV000024505 pathogenic Leukoencephalopathy with vanishing white matter 4 2002-02-01 no assertion criteria provided literature only

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