ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.170T>C (p.Phe57Ser)

gnomAD frequency: 0.00004  dbSNP: rs758129111
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001907916 SCV002142805 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 57 of the EIF2B5 protein (p.Phe57Ser). This variant is present in population databases (rs758129111, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with EIF2B5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1372063). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt EIF2B5 protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002482583 SCV002793588 uncertain significance Vanishing white matter disease 2021-12-09 criteria provided, single submitter clinical testing

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