NM_033337.3(CAV3):c.6_7del (p.Met2fs) AND Long QT syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 12, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000464773.6

Allele description

NM_033337.3(CAV3):c.6_7del (p.Met2fs)

Gene:

CAV3:caveolin 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_033337.3(CAV3):c.6_7del (p.Met2fs)

HGVS:

NC_000003.12:g.8733882_8733883del
NG_008797.2:g.5073_5074del
NM_001234.5:c.6_7del
NM_033337.3:c.6_7delMANE SELECT
NP_001225.1:p.Met2fs
NP_203123.1:p.Met2fs
NP_203123.1:p.Met2fs
LRG_329t1:c.6_7del
LRG_329:g.5073_5074del
LRG_329p1:p.Met2fs
NC_000003.11:g.8775568_8775569del
NC_000003.11:g.8775568_8775569delGG
NM_033337.2:c.6_7del
NM_033337.2:c.6_7delGG
p.Met2IlefsX21

Protein change:

M2fs

Links:

dbSNP: rs1060502318

NCBI 1000 Genomes Browser:

rs1060502318

Molecular consequence:

NM_001234.5:c.6_7del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033337.3:c.6_7del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000549196	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 12, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 18487559, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000549196

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 12, 2022)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease.

Traverso M, Bruno C, Broccolini A, Sotgia F, Donati MA, Assereto S, Gazzerro E, Lo Monaco M, Modoni A, D'Amico A, Gasperini S, Ricci E, Zara F, Lisanti M, Minetti C.

J Neurol Neurosurg Psychiatry. 2008 Jun;79(6):735-7. doi: 10.1136/jnnp.2007.133207. No abstract available.

PubMed [citation]

PMID:: 18487559

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000549196.7

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

Description

ClinVar contains an entry for this variant (Variation ID: 409261). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CAV3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met2Ilefs*21) in the CAV3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CAV3 are known to be pathogenic (PMID: 18487559).

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

Last Updated: May 26, 2024

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