{{Rsnum
|rsid=35769976
|Gene=NOTCH3
|Chromosome=19
|position=15180765
|Orientation=plus
|GMAF=0.08356
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=MIR6795,NOTCH3
}}{{omim
|id=600276
|desc=NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3
|rsnum=35769976
}}
{{omim
|id=600276
|rsnum=35769976
|variant=0010
}}{{ClinVar
|rsid=35769976
|Reversed=0
|FwdREF=C
|FwdALT=G
|REF=C
|ALT=G
|RSPOS=15291576
|CHROM=19
|GMAF=0.0838
|dbSNPBuildID=126
|SSR=0
|SAO=1
|VP=0x05016000000015051e110100
|GENEINFO=NOTCH3:4854
|GENE_NAME=NOTCH3
|GENE_ID=4854
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.15291576C>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=600276.0010
|CLNSIG=5
|CLNCUI=C1272305
|CLNDBN=Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
|Disease=Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
|CLNACC=RCV000009808.1
|Tags=PM;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;LSD;OM
|CAF=0.9164; 0.08356
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1500:C1272305:125310:136:390936003
|COMMON=1
}}{{GET Evidence
|gene=NOTCH3
|aa_change=Ala1020Pro
|aa_change_short=A1020P
|impact=benign
|qualified_impact=Low clinical importance, Likely benign
|inheritance=undefined
|quality_scores=Array
|dbsnp_id=rs35769976
|overall_frequency_n=1202
|overall_frequency_d=10748
|overall_frequency=0.111835
|n_genomes=16
|n_genomes_annotated=0
|n_haplomes=21
|n_articles=3
|n_articles_annotated=3
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_case_control=4
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.003
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|max_or_disease_name=CADASIL
|max_or_case_pos=2
|max_or_case_neg=0
|max_or_control_pos=42
|max_or_control_neg=285
|max_or_or=INF
|autoscore=4
|webscore=N
|n_web_uneval=3
|variant_evidence=0
|clinical_importance=1
|summary_short=Probably nonpathogenic. Reported by Scheid et al. as possibly causing CADASIL in a dominant manner, but an immediate follow-up from Quattrone et al. disagreed with this hypothesis, pointing to the presence of the variant in their own controls and the high allele frequency for the variant seen in dbSNP data.
}}