NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys) AND Congenital stationary night blindness 1B

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 29, 2005
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:: RCV000006198.3

Allele description [Variation Report for NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys)]

NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys)

Genes:

GRM6:glutamate metabotropic receptor 6 [Gene - OMIM - HGNC]
ZNF454:zinc finger protein 454 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.3

Genomic location:

Preferred name:

NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys)

HGVS:

NC_000005.10:g.178983005C>T
NG_008105.1:g.17119G>A
NM_000843.4:c.2341G>AMANE SELECT
NP_000834.2:p.Glu781Lys
LRG_1236t1:c.2341G>A
LRG_1236:g.17119G>A
LRG_1236p1:p.Glu781Lys
NC_000005.9:g.178410006C>T
NM_000843.3:c.2341G>A
O15303:p.Glu781Lys

Protein change:

E781K; GLU781LYS

Links:

UniProtKB: O15303#VAR_030757; OMIM: 604096.0002; dbSNP: rs62638625

NCBI 1000 Genomes Browser:

rs62638625

Molecular consequence:

NM_000843.4:c.2341G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital stationary night blindness 1B
Synonyms:: NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE; Night blindness, congenital stationary (complete), 1B, autosomal recessive
Identifiers:: MONDO: MONDO:0009758; MedGen: C1850362; Orphanet: 215; OMIM: 257270

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
SCV000026380	OMIM	no assertion criteria provided	Pathogenic (Mar 29, 2005)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026380

OMIM

no assertion criteria provided

Pathogenic
(Mar 29, 2005)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6.

Dryja TP, McGee TL, Berson EL, Fishman GA, Sandberg MA, Alexander KR, Derlacki DJ, Rajagopalan AS.

Proc Natl Acad Sci U S A. 2005 Mar 29;102(13):4884-9. Epub 2005 Mar 21.

PubMed [citation]

PMID:: 15781871
PMCID:: PMC555731

Details of each submission

From OMIM, SCV000026380.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 14-year-old girl with congenital stationary night blindness type 1B (CSNB1B; 257270), Dryja et al. (2005) identified homozygosity for a 2341G-A transition in exon 9 of the GRM6 gene. The mutation resulted in a glu781-to-lys (E781L) substitution at a highly conserved residue in the third intracellular loop between transmembrane domains V and VI. The patient had been adopted, and no family history was available.

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

Last Updated: Feb 20, 2024

ClinVar

Relating variation to medicine