NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) AND Leber congenital amaurosis

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 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:: RCV001003073.2

Allele description [Variation Report for NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)]

NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)

Gene:

LCA5:lebercilin LCA5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q14.1

Genomic location:

Preferred name:

NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)

HGVS:

NC_000006.12:g.79493636G>A
NG_016011.1:g.48795C>T
NM_001122769.3:c.835C>TMANE SELECT
NM_181714.4:c.835C>T
NP_001116241.1:p.Gln279Ter
NP_859065.2:p.Gln279Ter
NC_000006.11:g.80203353G>A
NM_181714.3:c.835C>T

Protein change:

Q279*; GLN279TER

Links:

OMIM: 611408.0003; dbSNP: rs121918165

NCBI 1000 Genomes Browser:

rs121918165

Molecular consequence:

NM_001122769.3:c.835C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_181714.4:c.835C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001161130	Sharon lab, Hadassah-Hebrew University Medical Center	no assertion criteria provided	Pathogenic (Jun 23, 2019)	inherited	research
SCV001453528	Natera, Inc.	no assertion criteria provided	Pathogenic (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001161130

Sharon lab, Hadassah-Hebrew University Medical Center

no assertion criteria provided

Pathogenic
(Jun 23, 2019)

inherited

research

SCV001453528

Natera, Inc.

no assertion criteria provided

Pathogenic
(Sep 16, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161130.1

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

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

From Natera, Inc., SCV001453528.1

#	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: Mar 16, 2024

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