Total 10 pathogenic variants reported for Leukoencephalopathy with vanishing white matter 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001414.4(EIF2B1):c.252+1G>A SNV
Germline
Chr12:123630396 Conflicting classifications of pathogenicity Vanishing white matter disease
Condition: not provided
Leukoencephalopathy with vanishing white matter 1
Uterine corpus endometrial carcinoma
Criteria Provided
Conflicting Classifications
CA340165 rs_113994006

6 SubmittersRCV000004339RCV000255352RCV003492283RCV005887291

NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys) SNV
Germline
Chr12:123621850 Pathogenic/Likely pathogenic Vanishing white matter disease
Condition: not provided
Leukoencephalopathy with vanishing white matter 1
Criteria Provided
Multiple Submitters
No Conflicts
CA347593 rs_758746181

8 SubmittersRCV000201219RCV003556247RCV005008139

NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) SNV
Germline
Chr16:89553805 Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7
Condition: not provided
Leukoencephalopathy with vanishing white matter 1
Criteria Provided
Conflicting Classifications
CA349575 rs_769602042

10 SubmittersRCV000205405RCV000585273RCV005861079

NM_001034116.2(EIF2B4):c.728C>T (p.Pro243Leu) SNV
Germline
Chr2:27367800 Pathogenic/Likely pathogenic Condition: not provided
Vanishing white matter disease
Leukoencephalopathy with vanishing white matter 4
Leukoencephalopathy with vanishing white matter 1
Criteria Provided
Multiple Submitters
No Conflicts
CA1576800 rs_113994030

5 SubmittersRCV000482195RCV001782965RCV003492070RCV004787777

NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln) SNV
Germline
Chr2:27368104 Conflicting classifications of pathogenicity Condition: not provided
Vanishing white matter disease
Inborn genetic diseases
Leukoencephalopathy with vanishing white matter 1
Leukoencephalopathy with vanishing white matter 4
Criteria Provided
Conflicting Classifications
CA1576829 rs_113994028

7 SubmittersRCV000486128RCV000985031RCV002525826RCV004767292RCV005027544

NM_001414.4(EIF2B1):c.439C>T (p.Arg147Ter) SNV
Germline
Chr12:123627087 Pathogenic/Likely pathogenic Vanishing white matter disease
Condition: not provided
Leukoencephalopathy with vanishing white matter 1
Criteria Provided
Multiple Submitters
No Conflicts
CA6860130 rs_370678173

5 SubmittersRCV001290183RCV001383003RCV004595589

NM_001034116.2(EIF2B4):c.631G>T (p.Gly211Cys) SNV
Germline
Chr2:27368099 Likely pathogenic Leukoencephalopathy with vanishing white matter 1 Criteria Provided
Single Submitter
CA346200392 rs_1332546889

1 SubmittersRCV004785557