NM_130831.3(OPA1):c.1079T>G (p.Leu360Arg) AND not provided

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 29, 2014
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:: RCV000153621.3

Allele description

NM_130831.3(OPA1):c.1079T>G (p.Leu360Arg)

Gene:

OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q29

Genomic location:

Preferred name:

NM_130831.3(OPA1):c.1079T>G (p.Leu360Arg)

HGVS:

NC_000003.12:g.193643419T>G
NG_011605.1:g.55276T>G
NM_001354663.2:c.818T>G
NM_001354664.2:c.815T>G
NM_130831.3:c.1079T>G
NM_130832.3:c.1133T>G
NM_130833.2:c.1190T>G
NM_130834.3:c.1241T>G
NM_130835.2:c.1244T>G
NM_130836.3:c.1298T>G
NM_130837.2:c.1352T>G
NP_001341592.1:p.Leu273Arg
NP_001341593.1:p.Leu272Arg
NP_056375.2:p.Leu396Arg
NP_570844.1:p.Leu360Arg
NP_570845.1:p.Leu378Arg
NP_570846.1:p.Leu397Arg
NP_570847.2:p.Leu414Arg
NP_570848.1:p.Leu415Arg
NP_570849.2:p.Leu433Arg
NP_570850.2:p.Leu451Arg
LRG_337t1:c.1187T>G
LRG_337t2:c.1352T>G
LRG_337:g.55276T>G
LRG_337p1:p.Leu396Arg
LRG_337p2:p.Leu451Arg
NC_000003.11:g.193361208T>G
O60313:p.Leu396Arg

Protein change:

L272R

Links:

UniProtKB: O60313#VAR_022927; dbSNP: rs727504060

NCBI 1000 Genomes Browser:

rs727504060

Molecular consequence:

NM_001354663.2:c.818T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354664.2:c.815T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130831.3:c.1079T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130832.3:c.1133T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130833.2:c.1190T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130834.3:c.1241T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130835.2:c.1244T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130836.3:c.1298T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130837.2:c.1352T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000203168	EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Apr 29, 2014)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 12036970, 17306754 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000203168

EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Apr 29, 2014)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.

Thiselton DL, Alexander C, Taanman JW, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van Regemorter N, Munier FL, Moore AT, Bhattacharya SS, Votruba M.

Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1715-24.

PubMed [citation]

PMID:: 12036970

Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.

Cohn AC, Toomes C, Potter C, Towns KV, Hewitt AW, Inglehearn CF, Craig JE, Mackey DA.

Am J Ophthalmol. 2007 Apr;143(4):656-62. Epub 2007 Feb 15.

PubMed [citation]

PMID:: 17306754

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000203168.7

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

#	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		1	not provided	not provided	not provided

Last Updated: Feb 7, 2021

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