NM_033337.3(CAV3):c.37A>T (p.Ile13Phe) AND Long QT syndrome

Germline classification:: Likely pathogenic (1 submission)
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:: RCV000190168.1

Allele description [Variation Report for NM_033337.3(CAV3):c.37A>T (p.Ile13Phe)]

NM_033337.3(CAV3):c.37A>T (p.Ile13Phe)

Gene:

CAV3:caveolin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_033337.3(CAV3):c.37A>T (p.Ile13Phe)

HGVS:

NC_000003.12:g.8733913A>T
NG_008797.2:g.5104A>T
NM_001234.5:c.37A>T
NM_033337.3:c.37A>TMANE SELECT
NP_001225.1:p.Ile13Phe
NP_203123.1:p.Ile13Phe
NP_203123.1:p.Ile13Phe
LRG_329t1:c.37A>T
LRG_329:g.5104A>T
LRG_329p1:p.Ile13Phe
NC_000003.11:g.8775599A>T
NM_033337.2:c.37A>T

Protein change:

I13F

Links:

dbSNP: rs796052171

NCBI 1000 Genomes Browser:

rs796052171

Molecular consequence:

NM_001234.5:c.37A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_033337.3:c.37A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Long QT syndrome (LQTS)
Identifiers:: MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000222018	Medical Research Institute, Tokyo Medical and Dental University See additional submitters Division of Diabetes and Metabolic Diseases, Graduate School of Medicine, University of Tokyo	no assertion criteria provided	Likely pathogenic	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000222018

Medical Research Institute, Tokyo Medical and Dental University

See additional submitters

no assertion criteria provided

Likely pathogenic

germline

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes.

Shigemizu D, Aiba T, Nakagawa H, Ozaki K, Miya F, Satake W, Toda T, Miyamoto Y, Fujimoto A, Suzuki Y, Kubo M, Tsunoda T, Shimizu W, Tanaka T.

PLoS One. 2015;10(7):e0130329. doi: 10.1371/journal.pone.0130329.

PubMed [citation]

PMID:: 26132555
PMCID:: PMC4488844

Details of each submission

From Medical Research Institute, Tokyo Medical and Dental University, SCV000222018.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

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

Last Updated: Apr 23, 2022

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