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NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser) AND Leber congenital amaurosis 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 1, 2016
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:
RCV000678615.2

Allele description [Variation Report for NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser)]

NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser)

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.1399C>T (p.Pro467Ser)
HGVS:
  • NC_000001.11:g.68431116G>A
  • NG_008472.2:g.23844C>T
  • NM_000329.3:c.1399C>TMANE SELECT
  • NP_000320.1:p.Pro467Ser
  • NC_000001.10:g.68896799G>A
  • NG_008472.1:g.23844C>T
  • NM_000329.2:c.1399C>T
Protein change:
P467S
Links:
dbSNP: rs1395763356
NCBI 1000 Genomes Browser:
rs1395763356
Molecular consequence:
  • NM_000329.3:c.1399C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000804703Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
no assertion criteria provided
Uncertain significance
(Sep 1, 2016) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+, SCV000804703.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 5, 2024