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NM_000329.3(RPE65):c.914G>T (p.Arg305Ile) AND Leber congenital amaurosis 2

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001250689.1

Allele description [Variation Report for NM_000329.3(RPE65):c.914G>T (p.Arg305Ile)]

NM_000329.3(RPE65):c.914G>T (p.Arg305Ile)

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.914G>T (p.Arg305Ile)
HGVS:
  • NC_000001.11:g.68439026C>A
  • NG_008472.1:g.15934G>T
  • NG_008472.2:g.15934G>T
  • NM_000329.3:c.914G>TMANE SELECT
  • NP_000320.1:p.Arg305Ile
  • NC_000001.10:g.68904709C>A
  • NM_000329.2:c.914G>T
Protein change:
R305I
Links:
dbSNP: rs1645880293
NCBI 1000 Genomes Browser:
rs1645880293
Molecular consequence:
  • NM_000329.3:c.914G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Leber congenital amaurosis 2 (LCA2)
Synonyms:
AMAUROSIS CONGENITA OF LEBER II; Amaurosis congenita of Leber, type 2; RPE65-Related Leber Congenital Amaurosis
Identifiers:
MONDO: MONDO:0008765; MedGen: C1859844; Orphanet: 65; OMIM: 204100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001425560Laboratory of Genetics in Ophthalmology, Institut Imagine
no assertion criteria provided
Likely pathogenicinheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedresearch

Details of each submission

From Laboratory of Genetics in Ophthalmology, Institut Imagine, SCV001425560.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 5, 2022