Total 31 pathogenic variants reported for Lateral meningocele syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) SNV
Germline		 Chr19:15192134 Pathogenic Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Myofibromatosis, infantile, 2
Lateral meningocele syndrome
Condition: not provided
NOTCH3-related disorder
Stroke disorder
Migraine without aura		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340884 rs_28933696

16 SubmittersRCV000009800RCV002482849RCV000518159RCV004532317RCV001003548
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) SNV
Germline		 Chr19:15192242 Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Recurrent subcortical infarcts
Condition: not provided
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
NOTCH3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340890 rs_137852642

17 SubmittersRCV000009806RCV000415016RCV000516340RCV003996082RCV004532318
NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter) SNV
Germline		 Chr19:15161381 Pathogenic Lateral meningocele syndrome Criteria Provided
Single Submitter
 CA204353 rs_796065045

3 SubmittersRCV000190331
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) SNV
Germline		 Chr19:15192182 Pathogenic Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Ischemic stroke
Transient ischemic attack
Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Myofibromatosis, infantile, 2
Lateral meningocele syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346917 rs_797045014

9 SubmittersRCV000190514RCV000626690RCV001554929RCV004796085
NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter) SNV
Germline		 Chr19:15160896 Pathogenic Lateral meningocele syndrome Criteria Provided
Single Submitter
 CA358565 rs_869312910

3 SubmittersRCV000210475
NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter) SNV
Germline		 Chr19:15160965 Pathogenic Lateral meningocele syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA358562 rs_869312911

4 SubmittersRCV000210457RCV000426246
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) SNV
Germline		 Chr19:15187126 Pathogenic/Likely pathogenic Condition: not provided
Myofibromatosis, infantile, 2
Lateral meningocele syndrome
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9263542 rs_777751303

9 SubmittersRCV000415985RCV000763036RCV002221233
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) SNV
Germline		 Chr19:15180103 Pathogenic/Likely pathogenic Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Sneddon syndrome
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
NOTCH3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA404513034 rs_1555727841

5 SubmittersRCV000517796RCV000763035RCV002508219RCV004737590
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) SNV
Germline		 Chr19:15180761 Pathogenic/Likely pathogenic Condition: not provided
NOTCH3-related disorder
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA404514283 rs_1167405466

9 SubmittersRCV000518485RCV004737589RCV001800727
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) SNV
Germline		 Chr19:15187273 Pathogenic/Likely pathogenic Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
See cases
NOTCH3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9263584 rs_75068032

12 SubmittersRCV000517370RCV000763037RCV001526580RCV002252148RCV004537851
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) SNV
Germline		 Chr19:15192020 Pathogenic/Likely pathogenic Condition: not provided
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
NOTCH3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9263848 rs_775267348

11 SubmittersRCV000517748RCV001374652RCV000763039RCV003330087RCV004737591
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) SNV
Germline		 Chr19:15192202 Pathogenic Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA404534075 rs_1236699193

5 SubmittersRCV000518724RCV000763040RCV000999640
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys) SNV
Germline		 Chr19:15192218 Pathogenic Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Myofibromatosis, infantile, 2
NOTCH3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA404534145 rs_1174625611

13 SubmittersRCV000518361RCV001089753RCV002497000RCV004537854
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys) SNV
Germline		 Chr19:15197537 Pathogenic/Likely pathogenic Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Lateral meningocele syndrome
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Myofibromatosis, infantile, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA404483379 rs_1555730189

6 SubmittersRCV000516423RCV001253276RCV002508218RCV004796220
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) SNV
Germline		 Chr19:15187315 Pathogenic/Likely pathogenic Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Myofibromatosis, infantile, 2
Lateral meningocele syndrome
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Lateral meningocele syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_201118034

14 SubmittersRCV000657880RCV000763038RCV000778145RCV001805784RCV004783834
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly) SNV
Germline		 Chr19:15197552 Pathogenic Condition: not provided
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555730197

4 SubmittersRCV000710993RCV002485786
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp) SNV
Germline		 Chr19:15161009 Conflicting classifications of pathogenicity Inborn genetic diseases
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
NOTCH3-related disorder		 Criteria Provided
Conflicting Classifications
 rs_753170185

6 SubmittersRCV003243392RCV002481780RCV000996808RCV001123437RCV004536033
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys) SNV
Germline		 Chr19:15189022 Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Condition: not provided
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_762734007

5 SubmittersRCV000999636RCV001811557RCV002489505
NM_000435.3(NOTCH3):c.2051C>T (p.Pro684Leu) SNV
Germline		 Chr19:15185580 Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Myofibromatosis, infantile, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_770737365

3 SubmittersRCV001125797RCV002482248RCV003727882
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly) SNV
Germline		 Chr19:15192478 Conflicting classifications of pathogenicity Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Myofibromatosis, infantile, 2
Lateral meningocele syndrome		 Criteria Provided
Conflicting Classifications
 rs_1599395616

4 SubmittersRCV001812344RCV004796409
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu) SNV
Germline		 Chr19:15192280 Conflicting classifications of pathogenicity Condition: not provided
Myofibromatosis, infantile, 2
Lateral meningocele syndrome
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
not specified		 Criteria Provided
Conflicting Classifications
 rs_778715118

4 SubmittersRCV001663857RCV002488456RCV004998952
NM_000435.3(NOTCH3):c.2960C>G (p.Thr987Ser) SNV
Germline		 Chr19:15180995 Conflicting classifications of pathogenicity Cerebral cavernous malformation
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_752995216

3 SubmittersRCV001728074RCV002496054RCV002032702
NM_000435.3(NOTCH3):c.2183G>A (p.Arg728His) SNV
Germline		 Chr19:15185370 Conflicting classifications of pathogenicity Condition: not provided
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1		 Criteria Provided
Conflicting Classifications
 rs_144935367

3 SubmittersRCV001902706RCV002482661
NM_000435.3(NOTCH3):c.3172G>T (p.Gly1058Cys) SNV
Unknown		 Chr19:15180227 Pathogenic Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome		 Criteria Provided
Single Submitter

2 SubmittersRCV002475311RCV002508365
NM_000435.3(NOTCH3):c.617G>A (p.Cys206Tyr) SNV
Germline		 Chr19:15192022 Pathogenic/Likely pathogenic Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003560095RCV004011415