Total 28 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
Condition: not provided
Stroke disorder
Migraine without aura
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
 CA340884 rs_28933696

15 SubmittersRCV000009800RCV000518159RCV001003548RCV002482849RCV004532317
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
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
 CA340890 rs_137852642

16 SubmittersRCV000009806RCV000415016RCV000516340RCV004532318RCV003996082
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.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 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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9263542 rs_777751303

7 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
Lateral meningocele syndrome
Sneddon syndrome
Myofibromatosis, infantile, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA404513034 rs_1555727841

4 SubmittersRCV000517796RCV000763035RCV002508219
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) SNV
Germline		 Chr19:15180761 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
 CA404514283 rs_1167405466

7 SubmittersRCV000518485RCV001800727
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 Conflicting classifications of pathogenicity Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1		 Criteria Provided
Conflicting Classifications
 CA9263848 rs_775267348

9 SubmittersRCV000517748RCV000763039RCV001374652RCV003330087
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
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
NOTCH3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA404534145 rs_1174625611

11 SubmittersRCV000518361RCV001089753RCV002497000RCV004537854
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) SNV
Germline		 Chr19:15187315 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
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_201118034

12 SubmittersRCV000657880RCV000763038RCV000778145RCV001805784
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly) SNV
Germline		 Chr19:15197552 Pathogenic 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_1555730197

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

6 SubmittersRCV000996808RCV001123437RCV002481780RCV003243392RCV004536033
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys) SNV
Germline		 Chr19:15189022 Likely pathogenic Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
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
 rs_762734007

4 SubmittersRCV000999636RCV001811557RCV002489505
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=) SNV
Germline		 Chr19:15170531 Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Condition: not provided
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
not specified
NOTCH3-related disorder		 Criteria Provided
Conflicting Classifications
 rs_149222385

6 SubmittersRCV001125635RCV001288089RCV002482246RCV003994218RCV004538350
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
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_770737365

3 SubmittersRCV001125797RCV002482248RCV003727882
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		 Criteria Provided
Conflicting Classifications
 rs_778715118

4 SubmittersRCV001663857RCV002488456
NM_000435.3(NOTCH3):c.2960C>G (p.Thr987Ser) SNV
Germline		 Chr19:15180995 Conflicting classifications of pathogenicity Cerebral cavernous malformation
Condition: not provided
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome		 Criteria Provided
Conflicting Classifications
 rs_752995216

3 SubmittersRCV001728074RCV002032702RCV002496054
NM_000435.3(NOTCH3):c.2183G>A (p.Arg728His) SNV
Germline		 Chr19:15185370 Conflicting classifications of pathogenicity Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2		 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
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003560095RCV004011415