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NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) AND Retinitis pigmentosa 20

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 8, 2021
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:
RCV001376448.1

Allele description [Variation Report for NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)]

NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)

Gene:
RPE65:retinoid isomerohydrolase RPE65 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.3
Genomic location:
Preferred name:
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)
Other names:
NM_000329.3(RPE65):c.700C>T; p.Arg234Ter
HGVS:
  • NC_000001.11:g.68439586G>A
  • NG_008472.2:g.15374C>T
  • NM_000329.3:c.700C>TMANE SELECT
  • NP_000320.1:p.Arg234Ter
  • NC_000001.10:g.68905269G>A
  • NG_008472.1:g.15374C>T
  • NM_000329.2:c.700C>T
Protein change:
R234*; ARG234TER
Links:
OMIM: 180069.0002; dbSNP: rs61752895
NCBI 1000 Genomes Browser:
rs61752895
Molecular consequence:
  • NM_000329.3:c.700C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Retinitis pigmentosa 20 (RP20)
Synonyms:
RP 20
Identifiers:
MONDO: MONDO:0013425; MedGen: C3151086; Orphanet: 791; OMIM: 613794

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001573589Ocular Genomics Institute, Massachusetts Eye and Ear
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 8, 2021) 		germlineresearch

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.

Chung DC, Bertelsen M, Lorenz B, Pennesi ME, Leroy BP, Hamel CP, Pierce E, Sallum J, Larsen M, Stieger K, Preising M, Weleber R, Yang P, Place E, Liu E, Schaefer G, DiStefano-Pappas J, Elci OU, McCague S, Wellman JA, High KA, Reape KZ.

Am J Ophthalmol. 2019 Mar;199:58-70. doi: 10.1016/j.ajo.2018.09.024. Epub 2018 Sep 28.

PubMed [citation]
PMID:
30268864
PMCID:
PMC6445969

Mutations in RPE65 cause Leber's congenital amaurosis.

Marlhens F, Bareil C, Griffoin JM, Zrenner E, Amalric P, Eliaou C, Liu SY, Harris E, Redmond TM, Arnaud B, Claustres M, Hamel CP.

Nat Genet. 1997 Oct;17(2):139-41. No abstract available.

PubMed [citation]
PMID:
9326927
See all PubMed Citations (3)

Details of each submission

From Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001573589.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (3)

Description

The RPE65 c.700C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PP1-M, PM2, PVS1. Based on this evidence we have classified this variant as Pathogenic.

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

Last Updated: Mar 5, 2024