NM_033337.3(CAV3):c.290T>G (p.Phe97Cys) AND Long QT syndrome 9, acquired, susceptibility to

Germline classification:: risk factor (1 submission)
Last evaluated:: Nov 14, 2006
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000008789.5

Allele description [Variation Report for NM_033337.3(CAV3):c.290T>G (p.Phe97Cys)]

NM_033337.3(CAV3):c.290T>G (p.Phe97Cys)

Genes:

CAV3:caveolin 3 [Gene - OMIM - HGNC]
OXTR:oxytocin receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_033337.3(CAV3):c.290T>G (p.Phe97Cys)

HGVS:

NC_000003.12:g.8745701T>G
NG_008797.2:g.16892T>G
NM_001234.5:c.290T>G
NM_033337.3:c.290T>GMANE SELECT
NP_001225.1:p.Phe97Cys
NP_203123.1:p.Phe97Cys
NP_203123.1:p.Phe97Cys
LRG_329t1:c.290T>G
LRG_329:g.16892T>G
LRG_329p1:p.Phe97Cys
NC_000003.11:g.8787387T>G
NM_033337.2:c.290T>G
P56539:p.Phe97Cys
p.(Phe97Cys)

Protein change:

F97C; PHE97CYS

Links:

Leiden Muscular Dystrophy (CAV3): CAV3_00056; UniProtKB: P56539#VAR_043698; OMIM: 601253.0017; dbSNP: rs104893714

NCBI 1000 Genomes Browser:

rs104893714

Molecular consequence:

NM_001234.5:c.290T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_033337.3:c.290T>G - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

functional variant [Sequence Ontology: SO:0001536]

Condition(s)

Name:: Long QT syndrome 9, acquired, susceptibility to
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028999	OMIM	no assertion criteria provided	risk factor (Nov 14, 2006)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 15580566, 17060380

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000028999

OMIM

no assertion criteria provided

risk factor
(Nov 14, 2006)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Molecular and muscle pathology in a series of caveolinopathy patients.

Fulizio L, Nascimbeni AC, Fanin M, Piluso G, Politano L, Nigro V, Angelini C.

Hum Mutat. 2005 Jan;25(1):82-9.

PubMed [citation]

PMID:: 15580566

Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.

Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ, Towbin JA.

Circulation. 2006 Nov 14;114(20):2104-12. Epub 2006 Oct 23.

PubMed [citation]

PMID:: 17060380

Details of each submission

From OMIM, SCV000028999.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

The numbering of this CAV3 mutation is based on the numbering system used by Fulizio et al. (2005).

In a 13-year-old asthmatic girl with long QT syndrome (LQT9; 611818) who was negative for mutations in known LQT genes, Vatta et al. (2006) identified heterozygosity for a de novo 290T-G transversion in the CAV3 gene, resulting in a phe97-to-cys (F97C) substitution at a highly conserved residue in the transmembrane domain. The patient presented with shortness of breath and chest pain; ECG showed marked QT prolongation with a QTc of 532 ms, which was present only, but reproducibly, on beta-agonist inhaler therapy for her asthma. The family history was unremarkable, and screening ECGs in all first-degree relatives showed normal QTc. The mutation was not found in either of her parents or in more than 1,000 control alleles. Functional studies demonstrated that F97C-mutant caveolin-3 resulted in a 2- to 3-fold increase in late sodium current compared to wildtype.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 11, 2023

ClinVar

Relating variation to medicine