NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 9, 2023
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:: RCV002511032.1

Allele description [Variation Report for NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)]

NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)

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.1380G>A (p.Trp460Ter)

Other names:

NM_000329.3(RPE65):c.1380G>A; p.Trp460Ter

HGVS:

NC_000001.11:g.68431135C>T
NG_008472.2:g.23825G>A
NM_000329.3:c.1380G>AMANE SELECT
NP_000320.1:p.Trp460Ter
NC_000001.10:g.68896818C>T
NG_008472.1:g.23825G>A
NM_000329.2:c.1380G>A

Protein change:

W460*

Links:

dbSNP: rs1645823028

NCBI 1000 Genomes Browser:

rs1645823028

Molecular consequence:

NM_000329.3:c.1380G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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rap guanine nucleotide exchange factor 6 isoform 2 [Mus musculus]
rap guanine nucleotide exchange factor 6 isoform 2 [Mus musculus]
gi|82617638|ref|NP_780467.2|

Protein
Mus musculus RIKEN cDNA 1700003L19 gene (1700003L19Rik), long non-coding RNA
Mus musculus RIKEN cDNA 1700003L19 gene (1700003L19Rik), long non-coding RNA
gi|340745346|ref|NR_040507.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002820871	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jan 9, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002820871

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jan 9, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002820871.1

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 17964524, 20079931)

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

Last Updated: Sep 29, 2024

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