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NM_130837.3(OPA1):c.1352T>A (p.Leu451His) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 29, 2012
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:
RCV000200712.1

Allele description [Variation Report for NM_130837.3(OPA1):c.1352T>A (p.Leu451His)]

NM_130837.3(OPA1):c.1352T>A (p.Leu451His)

Gene:
OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q29
Genomic location:
Preferred name:
NM_130837.3(OPA1):c.1352T>A (p.Leu451His)
HGVS:
  • NC_000003.12:g.193643419T>A
  • NG_011605.1:g.55276T>A
  • NM_001354663.2:c.818T>A
  • NM_001354664.2:c.815T>A
  • NM_015560.3:c.1187T>A
  • NM_130831.3:c.1079T>A
  • NM_130832.3:c.1133T>A
  • NM_130833.3:c.1190T>A
  • NM_130834.3:c.1241T>A
  • NM_130835.3:c.1244T>A
  • NM_130836.3:c.1298T>A
  • NM_130837.3:c.1352T>AMANE SELECT
  • NP_001341592.1:p.Leu273His
  • NP_001341593.1:p.Leu272His
  • NP_056375.2:p.Leu396His
  • NP_056375.2:p.Leu396His
  • NP_570844.1:p.Leu360His
  • NP_570845.1:p.Leu378His
  • NP_570846.1:p.Leu397His
  • NP_570847.2:p.Leu414His
  • NP_570848.1:p.Leu415His
  • NP_570849.2:p.Leu433His
  • NP_570850.2:p.Leu451His
  • LRG_337t1:c.1187T>A
  • LRG_337:g.55276T>A
  • LRG_337p1:p.Leu396His
  • NC_000003.11:g.193361208T>A
  • NM_015560.2:c.1187T>A
  • NM_130831.1:c.1079T>A
  • p.L396H
Protein change:
L272H
Links:
dbSNP: rs727504060
NCBI 1000 Genomes Browser:
rs727504060
Molecular consequence:
  • NM_001354663.2:c.818T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354664.2:c.815T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015560.3:c.1187T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130831.3:c.1079T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130832.3:c.1133T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130833.3:c.1190T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130834.3:c.1241T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130835.3:c.1244T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130836.3:c.1298T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130837.3:c.1352T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000251995GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(May 29, 2012) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000251995.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Leu396His (CTT>CAT): c.1187 T>A in exon 12 of the OPA1 gene (NM_015560.2) The L396H missense change was identified in the OPA1 gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. However, other missense mutations at the same position (L396R, L396P) have been reported previously in association with hereditary optic atrophy (Thiselton et al., 2002; Ferre et al., 2009). Furthermore, Leucine 396 is a highly conserved residue in the OPA1 protein that is close to a GTP-binding motif in the dynamin-related domain (Thiselton et al., 2002). Therefore, we interpret L396H to be a disease-associated mutation. The variant is found in OAPEO-MITOP panel(s).

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

Last Updated: Apr 23, 2022