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NM_033337.3(CAV3):c.80G>C (p.Arg27Pro) AND CAV3-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 16, 2023
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:
RCV003407362.4

Allele description [Variation Report for NM_033337.3(CAV3):c.80G>C (p.Arg27Pro)]

NM_033337.3(CAV3):c.80G>C (p.Arg27Pro)

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.80G>C (p.Arg27Pro)
HGVS:
  • NC_000003.12:g.8733956G>C
  • NG_008797.2:g.5147G>C
  • NM_001234.5:c.80G>C
  • NM_033337.3:c.80G>CMANE SELECT
  • NP_001225.1:p.Arg27Pro
  • NP_203123.1:p.Arg27Pro
  • NP_203123.1:p.Arg27Pro
  • LRG_329t1:c.80G>C
  • LRG_329:g.5147G>C
  • LRG_329p1:p.Arg27Pro
  • NC_000003.11:g.8775642G>C
  • NM_033337.2:c.80G>C
  • p.(Arg27Pro)
Protein change:
R27P
Links:
Leiden Muscular Dystrophy (CAV3): CAV3_00063; dbSNP: rs116840778
NCBI 1000 Genomes Browser:
rs116840778
Molecular consequence:
  • NM_001234.5:c.80G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033337.3:c.80G>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
unknown functional consequence

Condition(s)

Name:
CAV3-related disorder
Synonyms:
CAV3-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004112557PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 16, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004112557.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The CAV3 c.80G>C variant is predicted to result in the amino acid substitution p.Arg27Pro. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant was reported as likely pathogenic by an outside lab and indicated to segregate in a family with CAV3-related disorder (https://www.ncbi.nlm.nih.gov/clinvar/variation/31747). A different amino acid substitution at this position (p.Arg27Gln) has been repeatedly reported in individuals with features of autosomal dominant CAV3-related disorders (Vorgerd et al. 2001. PubMed ID: 11756609; Figarella-Branger et al 2003. PubMed ID: 12939441; p.Arg26Gln in Brauers et al. 2010. PubMed ID: 20472890; Ishiguro et al. 2018. PubMed ID: 30174172). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024