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NM_001234.5(CAV3):c.244G>A (p.Val82Ile)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Likely pathogenic(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Sep 29, 2021)
Last evaluated:
Mar 24, 2021
Accession:
VCV000279733.10
Variation ID:
279733
Description:
single nucleotide variant
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NM_001234.5(CAV3):c.244G>A (p.Val82Ile)

Allele ID
264150
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 8745655 (GRCh38) GRCh38 UCSC
3: 8787341 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.8787341G>A
NC_000003.12:g.8745655G>A
NG_008797.2:g.16846G>A
... more HGVS
Protein change
V82I
Other names
-
Canonical SPDI
NC_000003.12:8745654:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00006
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00005
The Genome Aggregation Database (gnomAD), exomes 0.00010
Links
ClinGen: CA2236342
dbSNP: rs112626848
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 1, 2020 RCV000457990.7
Uncertain significance 1 criteria provided, single submitter Mar 22, 2016 RCV000769174.1
Likely pathogenic 1 criteria provided, single submitter May 28, 2019 RCV000987089.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Mar 24, 2021 RCV000726760.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CAV3 - - GRCh38
GRCh37
197 329

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Mar 24, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000329204.7
Submitted: (Sep 29, 2021)
Evidence details
Comment:
In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the … (more)
Uncertain significance
(Mar 27, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000702867.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Mar 22, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Study: Canadian Open Genetics Repository
Accession: SCV000900549.1
Submitted: (Apr 30, 2018)
Evidence details
Likely pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome 1
Allele origin: unknown
Mendelics
Accession: SCV001136287.1
Submitted: (Oct 22, 2019)
Evidence details
Uncertain significance
(Aug 01, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000549195.7
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces valine with isoleucine at codon 82 of the CAV3 protein (p.Val82Ile). The valine residue is moderately conserved and there is a … (more)
Uncertain significance
(Dec 16, 2016)
no assertion criteria provided
Method: provider interpretation
not provided
Allele origin: germline
Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000925044.1
Submitted: (Aug 15, 2018)
Evidence details
Comment:
p.Val82Ile (c.244G>A) in exon 2 of the CAV3 gene (NM_033337.2) We have seen this variant in a person with HCM who also had a very … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Identification and functional analysis of a new putative caveolin-3 variant found in a patient with sudden unexplained death. Lariccia V Journal of biomedical science 2014 PMID: 24917393
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Lieve KV Genetic testing and molecular biomarkers 2013 PMID: 23631430
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CAV3 - - - -

Text-mined citations for rs112626848...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021