NM_033337.3(CAV3):c.236T>G (p.Leu79Arg) AND Long QT syndrome 9

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2007
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:: RCV000008794.2

Allele description [Variation Report for NM_033337.3(CAV3):c.236T>G (p.Leu79Arg)]

NM_033337.3(CAV3):c.236T>G (p.Leu79Arg)

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.236T>G (p.Leu79Arg)

HGVS:

NC_000003.12:g.8745647T>G
NG_008797.2:g.16838T>G
NM_001234.5:c.236T>G
NM_033337.3:c.236T>GMANE SELECT
NP_001225.1:p.Leu79Arg
NP_203123.1:p.Leu79Arg
NP_203123.1:p.Leu79Arg
LRG_329t1:c.236T>G
LRG_329:g.16838T>G
LRG_329p1:p.Leu79Arg
NC_000003.11:g.8787333T>G
NM_033337.2:c.236T>G
P56539:p.Leu79Arg
p.(Leu79Arg)

Protein change:

L79R; LEU79ARG

Links:

Leiden Muscular Dystrophy (CAV3): CAV3_00059; UniProtKB: P56539#VAR_043696; OMIM: 601253.0021; dbSNP: rs121909282

NCBI 1000 Genomes Browser:

rs121909282

Molecular consequence:

NM_001234.5:c.236T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_033337.3:c.236T>G - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

functional variant [Sequence Ontology: SO:0001536]

Condition(s)

Name:: Long QT syndrome 9 (LQT9)
Identifiers:: MONDO: MONDO:0012736; MedGen: C2678485; Orphanet: 101016; Orphanet: 768; OMIM: 611818

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029004	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2007)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 15580566, 17275750

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029004

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2007)

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

Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.

Cronk LB, Ye B, Kaku T, Tester DJ, Vatta M, Makielski JC, Ackerman MJ.

Heart Rhythm. 2007 Feb;4(2):161-6. Epub 2006 Dec 6.

PubMed [citation]

PMID:: 17275750
PMCID:: PMC2836535

Details of each submission

From OMIM, SCV000029004.1

#	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 frozen necropsy tissue from an 8-month-old black female infant who died of sudden infant death syndrome (SIDS; 272120), Cronk et al. (2007) identified a 236T-G transversion in the CAV3 gene, resulting in a leu79-to-arg (L79R) substitution at a highly conserved residue. Voltage-clamp studies in HEK293 cells demonstrated that the mutant caused a 5-fold increase in late sodium current compared to wildtype. The mutation was not found in 400 reference alleles, of which 200 were ethnically matched.

#	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: Feb 20, 2024

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