Submissions for variant NM_020365.5(EIF2B3):c.1277T>C (p.Ile426Thr)

gnomAD frequency: 0.00002  dbSNP: rs762959486

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV002252313	SCV002523783	uncertain significance	See cases	2020-09-02	criteria provided, single submitter	clinical testing	ACMG classification criteria: PM2, BP4
Labcorp Genetics (formerly Invitae), Labcorp	RCV002557944	SCV002941862	uncertain significance	not provided	2022-06-13	criteria provided, single submitter	clinical testing	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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). ClinVar contains an entry for this variant (Variation ID: 870560). This variant has not been reported in the literature in individuals affected with EIF2B3-related conditions. This variant is present in population databases (rs762959486, gnomAD 0.004%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 426 of the EIF2B3 protein (p.Ile426Thr).
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV004031219	SCV004934113	uncertain significance	Leukoencephalopathy with vanishing white matter 1	2024-04-22	criteria provided, single submitter	clinical testing
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,	RCV001090119	SCV001245438	uncertain significance	Vanishing white matter disease		no assertion criteria provided	clinical testing