ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.515G>A (p.Arg172Gln)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002638505 SCV003521178 uncertain significance not provided 2021-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 172 of the EIF2B5 protein (p.Arg172Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs199920839, ExAC 0.01%). This variant has not been reported in the literature in individuals with EIF2B5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV003492804 SCV003831872 uncertain significance Leukoencephalopathy with vanishing white matter 5 2019-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004978733 SCV005576976 uncertain significance Inborn genetic diseases 2024-11-13 criteria provided, single submitter clinical testing The c.515G>A (p.R172Q) alteration is located in exon 4 (coding exon 4) of the EIF2B5 gene. This alteration results from a G to A substitution at nucleotide position 515, causing the arginine (R) at amino acid position 172 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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