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 SubmittersRCV000004339 RCV000255352 RCV003492283 RCV005887291
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 SubmittersRCV000201219 RCV003556247 RCV005008139
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 SubmittersRCV000205405 RCV000585273 RCV005861079
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 SubmittersRCV000482195 RCV001782965 RCV003492070 RCV004787777
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 SubmittersRCV000486128 RCV000985031 RCV002525826 RCV004767292 RCV005027544
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 SubmittersRCV001290183 RCV001383003 RCV004595589
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