NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter) AND 3-Methylglutaconic aciduria type 3

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Dec 11, 2019
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:: RCV000670984.13

Allele description [Variation Report for NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter)]

NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter)

Gene:

OPA3:outer mitochondrial membrane lipid metabolism regulator OPA3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

Preferred name:

NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter)

HGVS:

NC_000019.10:g.45529256G>A
NG_013332.1:g.60609C>T
NM_001017989.3:c.343C>T
NP_001017989.2:p.Arg115Ter
NC_000019.9:g.46032514G>A
NM_001017989.2:c.343C>T
NM_025136.3:c.*24258C>T

Protein change:

R115*

Links:

dbSNP: rs762247018

NCBI 1000 Genomes Browser:

rs762247018

Molecular consequence:

NM_001017989.3:c.343C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: 3-Methylglutaconic aciduria type 3 (MGCA3)
Synonyms:: OPA3, AUTOSOMAL RECESSIVE; OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE; OPA3-Related 3-Methylglutaconic Aciduria
Identifiers:: MONDO: MONDO:0009787; MedGen: C0574084; Orphanet: 67047; OMIM: 258501

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000795916	Counsyl	no assertion criteria provided	Uncertain significance (Nov 30, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001369689	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 11, 2019)	unknown	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

SCV000795916

Counsyl

no assertion criteria provided

Uncertain significance
(Nov 30, 2017)

unknown

clinical testing

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

SCV001369689

Centre for Mendelian Genomics, University Medical Centre Ljubljana

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 11, 2019)

unknown

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

Citations

PubMed

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.

Marelli C, Guissart C, Hubsch C, Renaud M, Villemin JP, Larrieu L, Charles P, Ayrignac X, Sacconi S, Collignon P, Cuntz-Shadfar D, Perrin L, Benarrosh A, Degardin A, Lagha-Boukbiza O, Mutez E, Carlander B, Morales RJ, Gonzalez V, Carra-Dalliere C, Azakri S, Mignard C, et al.

Hum Mutat. 2016 Dec;37(12):1340-1353. doi: 10.1002/humu.23063. Epub 2016 Sep 2.

PubMed [citation]

PMID:: 27528516

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 Counsyl, SCV000795916.2

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

Description

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV001369689.2

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

Description

This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.

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

Last Updated: Jul 13, 2025

ClinVar

Relating variation to medicine