{{Rsnum
|rsid=72546667
|Gene=CAV3
|Chromosome=3
|position=8745577
|Orientation=plus
|GMAF=0.03214
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CAV3,SSUH2
}}{{omim
|id=601253
|rsnum=72546667
|variant=0003
}}

{{ClinVar
|rsid=72546667
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=8787263
|CHROM=3
|GMAF=0.0321
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x050178000000150516110100
|GENEINFO=CAV3:859
|GENE_NAME=CAV3
|GENE_ID=859
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.8787263G>A
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;TPA;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9679; 0.03214
|CLNACC=RCV000008768.2; RCV000039799.2
|CLNDBN=Muscular dystrophy, limb-girdle, type 1c, autosomal recessive; AllHighlyPenetrant
|CLNDSDB=MedGen
|CLNDSDBID=CN169374
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNSRCID=3757; 601253.0003
|COMMON=1
|Disease=Muscular dystrophy; AllHighlyPenetrant
}}

{{PMID|9536092}} Caveolin-3 in muscular dystrophy.

{{PMID|11251997}} Mutations in the caveolin-3 gene: When are they pathogenic?

{{PMID|15580566}} Molecular and muscle pathology in a series of caveolinopathy patients.

{{PMID|16770780}} CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.

{{PMID|9536092}} Caveolin-3 in muscular dystrophy.

{{PMID|11251997}} Mutations in the caveolin-3 gene: When are they pathogenic?

{{PMID|16770780}} CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.

{{PMID|17060380}} Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.

{{GET Evidence
|gene=CAV3
|aa_change=Gly56Ser
|aa_change_short=G56S
|impact=pathogenic
|qualified_impact=High clinical importance, Uncertain pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs72546667
|overall_frequency_n=410
|overall_frequency_d=10758
|overall_frequency=0.0381112
|n_genomes=5
|n_genomes_annotated=0
|n_haplomes=5
|n_articles=3
|n_articles_annotated=3
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=!
|qualitycomment_in_vitro=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=4
|qualityscore_treatability=1
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.852
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|max_or_disease_name=Limb-Girdle Muscular Dystrophy Type 1C
|max_or_case_pos=4
|max_or_case_neg=282
|max_or_control_pos=4
|max_or_control_neg=396
|max_or_or=1.404
|autoscore=6
|webscore=N
|n_web_uneval=8
|variant_evidence=2
|clinical_importance=0
|summary_short=This variant has been implicated in causing limb-girdle dystrophy in a recessive manner, but it has only been seen homozygously once in a single patient and has been seen heterozygously in controls, so case/control data lacks significance.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}