NM_033337.3(CAV3):c.377G>A (p.Arg126His) AND not provided

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Aug 15, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000024397.9

Allele description [Variation Report for NM_033337.3(CAV3):c.377G>A (p.Arg126His)]

NM_033337.3(CAV3):c.377G>A (p.Arg126His)

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.377G>A (p.Arg126His)

HGVS:

NC_000003.12:g.8745788G>A
NG_008797.2:g.16979G>A
NM_001234.5:c.377G>A
NM_033337.3:c.377G>AMANE SELECT
NP_001225.1:p.Arg126His
NP_203123.1:p.Arg126His
NP_203123.1:p.Arg126His
LRG_329t1:c.377G>A
LRG_329:g.16979G>A
LRG_329p1:p.Arg126His
NC_000003.11:g.8787474G>A
NM_033337.2:c.377G>A
P56539:p.Arg126His
p.(Arg126His)

Protein change:

R126H

Links:

Leiden Muscular Dystrophy (CAV3): CAV3_00021; UniProtKB: P56539#VAR_029545; dbSNP: rs116840777

NCBI 1000 Genomes Browser:

rs116840777

Molecular consequence:

NM_001234.5:c.377G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033337.3:c.377G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

no known functional consequence

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000045691	Leiden Muscular Dystrophy (CAV3)	no classification provided	not provided	germline	curation	PubMed (2) [See all records that cite these PMIDs] 11251997, 14647208
SCV000565674	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 15, 2023)	germline	clinical testing	Citation Link,
SCV003829258	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 12, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000045691

Leiden Muscular Dystrophy (CAV3)

no classification provided

not provided

germline

curation

PubMed (2)
[See all records that cite these PMIDs]

SCV000565674

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 15, 2023)

germline

clinical testing

Citation Link,

SCV003829258

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 12, 2020)

germline

clinical testing

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	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Mutations in the caveolin-3 gene: When are they pathogenic?

de Paula F, Vainzof M, Bernardino AL, McNally E, Kunkel LM, Zatz M.

Am J Med Genet. 2001 Apr 1;99(4):303-7.

PubMed [citation]

PMID:: 11251997

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.

de Paula F, Vieira N, Starling A, Yamamoto LU, Lima B, de Cássia Pavanello R, Vainzof M, Nigro V, Zatz M.

Eur J Hum Genet. 2003 Dec;11(12):923-30.

PubMed [citation]

PMID:: 14647208

See all PubMed Citations (3)

Details of each submission

From Leiden Muscular Dystrophy (CAV3), SCV000045691.1

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

#	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

From GeneDx, SCV000565674.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Reported in individuals with limb-girdle muscular dystrophy (LGMD), co-occurring with a COL6A2 variant in one patient, in two unaffected siblings of one LGMD patient, as well as in an individual with arrhythmogenic right ventricular cardiomyopathy (de Paula et al., 2001; Brion et al., 2014; Fichna et al., 2018); In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29970176, 25630502, 11251997, 24981977)

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

From Revvity Omics, Revvity, SCV003829258.2

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

#	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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