NM_033337.3(CAV3):c.253G>A (p.Ala85Thr) AND Long QT syndrome 9

Germline classification:: Pathogenic (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:: RCV000008792.5

Allele description [Variation Report for NM_033337.3(CAV3):c.253G>A (p.Ala85Thr)]

NM_033337.3(CAV3):c.253G>A (p.Ala85Thr)

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.253G>A (p.Ala85Thr)

HGVS:

NC_000003.12:g.8745664G>A
NG_008797.2:g.16855G>A
NM_001234.5:c.253G>A
NM_033337.3:c.253G>AMANE SELECT
NP_001225.1:p.Ala85Thr
NP_203123.1:p.Ala85Thr
NP_203123.1:p.Ala85Thr
LRG_329t1:c.253G>A
LRG_329:g.16855G>A
LRG_329p1:p.Ala85Thr
NC_000003.11:g.8787350G>A
NM_033337.2:c.253G>A
P56539:p.Ala85Thr
p.(Ala85Thr)

Protein change:

A85T; ALA85THR

Links:

Leiden Muscular Dystrophy (CAV3): CAV3_00055; UniProtKB: P56539#VAR_043697; OMIM: 601253.0019; dbSNP: rs104893715

NCBI 1000 Genomes Browser:

rs104893715

Molecular consequence:

NM_001234.5:c.253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033337.3:c.253G>A - 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
SCV000029002	OMIM	no assertion criteria provided	Pathogenic (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

SCV000029002

OMIM

no assertion criteria provided

Pathogenic
(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, SCV000029002.3

#	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 36-year-old female who suffered a cardiac arrest while sleeping (LQT9; 611818), Vatta et al. (2006) identified heterozygosity for a 253G-A transition in the CAV3 gene, resulting in an ala85-to-thr (A85T) substitution at a conserved residue. The mutation was not found in more than 1,000 control alleles.

#	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

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