ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.667C>T (p.Arg223Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002288405 SCV002580728 uncertain significance Vanishing white matter disease 2022-04-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004617032 SCV005119483 uncertain significance Inborn genetic diseases 2024-05-15 criteria provided, single submitter clinical testing The c.667C>T (p.R223C) alteration is located in exon 4 (coding exon 4) of the EIF2B5 gene. This alteration results from a C to T substitution at nucleotide position 667, causing the arginine (R) at amino acid position 223 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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