NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr) AND Leber congenital amaurosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 16, 2020
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:: RCV001826774.1

Allele description [Variation Report for NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr)]

NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr)

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.1559T>C (p.Ile520Thr)

HGVS:

NC_000001.11:g.68429819A>G
NG_008472.2:g.25141T>C
NM_000329.3:c.1559T>CMANE SELECT
NP_000320.1:p.Ile520Thr
NC_000001.10:g.68895502A>G
NG_008472.1:g.25141T>C
NM_000329.2:c.1559T>C

Protein change:

I520T

Links:

dbSNP: rs281865291

NCBI 1000 Genomes Browser:

rs281865291

Molecular consequence:

NM_000329.3:c.1559T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Leber congenital amaurosis (LCA)
Synonyms:: Congenital retinal blindness; Leber's amaurosis
Identifiers:: MONDO: MONDO:0018998; MeSH: D057130; MedGen: C0339527; OMIM: PS204000

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002092730	Natera, Inc.	no assertion criteria provided	Uncertain significance (Mar 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002092730

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Mar 16, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV002092730.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine