ClinVar Miner

Submissions for variant NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys) (rs758746181)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000201219 SCV001469118 likely pathogenic Leukoencephalopathy with vanishing white matter 2020-05-08 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 9 of the EIF2B1 gene that results in the amino acid substitution of Cysteine for Tyrosine at codon 275 was detected. The observed variant c.824A>G (p.Tyr275Cys) lies in the initiation factor 2 subunit family domain of the EIF2B1 protein and has previously been reported in a compound heterozygous state in a patient affected with eIF2B-related disorders (Maletkovic et al. 2008). The variant has not been reported in the 1000 genomes and has a minor allele frequency of 0.009% in the ExAC databases. The in silico predictions of the variant are probably damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT, and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as likely pathogenic.
OMIM RCV000201219 SCV000255951 pathogenic Leukoencephalopathy with vanishing white matter 2008-02-01 no assertion criteria provided literature only

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