NM_130837.3(OPA1):c.1886T>C (p.Leu629Pro) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Dec 17, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_130837.3(OPA1):c.1886T>C (p.Leu629Pro)]

NM_130837.3(OPA1):c.1886T>C (p.Leu629Pro)

OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_130837.3(OPA1):c.1886T>C (p.Leu629Pro)
  • NC_000003.12:g.193648085T>C
  • NG_011605.1:g.59942T>C
  • NM_001354663.2:c.1352T>C
  • NM_001354664.2:c.1349T>C
  • NM_015560.3:c.1721T>C
  • NM_130831.3:c.1613T>C
  • NM_130832.3:c.1667T>C
  • NM_130833.3:c.1724T>C
  • NM_130834.3:c.1775T>C
  • NM_130835.3:c.1778T>C
  • NM_130836.3:c.1832T>C
  • NM_130837.3:c.1886T>CMANE SELECT
  • NP_001341592.1:p.Leu451Pro
  • NP_001341593.1:p.Leu450Pro
  • NP_056375.2:p.Leu574Pro
  • NP_570844.1:p.Leu538Pro
  • NP_570845.1:p.Leu556Pro
  • NP_570846.1:p.Leu575Pro
  • NP_570847.2:p.Leu592Pro
  • NP_570848.1:p.Leu593Pro
  • NP_570849.2:p.Leu611Pro
  • NP_570850.2:p.Leu629Pro
  • LRG_337t1:c.1721T>C
  • LRG_337:g.59942T>C
  • NC_000003.11:g.193365874T>C
  • NM_015560.2:c.1721T>C
Protein change:
Molecular consequence:
  • NM_001354663.2:c.1352T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354664.2:c.1349T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015560.3:c.1721T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130831.3:c.1613T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130832.3:c.1667T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130833.3:c.1724T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130834.3:c.1775T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130835.3:c.1778T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130836.3:c.1832T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130837.3:c.1886T>C - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001475335Athena Diagnostics Inccriteria provided, single submitter
Likely pathogenic
(Dec 17, 2019)
unknownclinical testing

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

Summary from all submissions

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



Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

Baris O, Delettre C, Amati-Bonneau P, Surget MO, Charlin JF, Catier A, Derieux L, Guyomard JL, Dollfus H, Jonveaux P, Ayuso C, Maumenee I, Lorenz B, Mohammed S, Tourmen Y, Bonneau D, Malthièry Y, Hamel C, Reynier P.

Hum Mutat. 2003 Jun;21(6):656.

PubMed [citation]

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

Details of each submission

From Athena Diagnostics Inc, SCV001475335.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)


Not found in the total gnomAD dataset, and the data is high quality. Predicted to have a damaging effect on the protein. One de novo case with parental identity confirmed.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 6, 2021

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