NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp) AND Retinitis punctata albescens

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 2001
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:: RCV000013979.32

Allele description [Variation Report for NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp)]

NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp)

Gene:

RLBP1:retinaldehyde binding protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp)

HGVS:

NC_000015.10:g.89210794G>A
NG_008116.1:g.15898C>T
NM_000326.5:c.700C>TMANE SELECT
NP_000317.1:p.Arg234Trp
NC_000015.9:g.89754025G>A
NM_000326.4:c.700C>T
P12271:p.Arg234Trp

Protein change:

R234W; ARG234TRP

Links:

UniProtKB: P12271#VAR_015172; OMIM: 180090.0004; dbSNP: rs28933990

NCBI 1000 Genomes Browser:

rs28933990

Molecular consequence:

NM_000326.5:c.700C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinitis punctata albescens
Identifiers:: MONDO: MONDO:0018877; MedGen: C1405854

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034226	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2001)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 11449319, 10102299

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034226

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2001)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

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

Electrophysiological findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene.

Gränse L, Abrahamson M, Ponjavic V, Andréasson S.

Ophthalmic Genet. 2001 Jun;22(2):97-105.

PubMed [citation]

PMID:: 11449319

Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.

Morimura H, Berson EL, Dryja TP.

Invest Ophthalmol Vis Sci. 1999 Apr;40(5):1000-4.

PubMed [citation]

PMID:: 10102299

Details of each submission

From OMIM, SCV000034226.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

A homozygous missense mutation in exon 7 of the RLBP1 gene, 9096C-T, which causes an arg234-to-trp (R234W) amino acid substitution, was associated with both Bothnia retinal dystrophy (607475) (Burstedt et al., 1999, 2001; Granse et al., 2001) and retinitis punctata albescens (136880) (Morimura et al., 1999).

#	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: Jun 9, 2024

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