NM_000326.5(RLBP1):c.190C>T (p.Arg64Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 19, 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:: RCV001226268.6

Allele description [Variation Report for NM_000326.5(RLBP1):c.190C>T (p.Arg64Ter)]

NM_000326.5(RLBP1):c.190C>T (p.Arg64Ter)

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.190C>T (p.Arg64Ter)

HGVS:

NC_000015.10:g.89217276G>A
NG_008116.1:g.9416C>T
NM_000326.5:c.190C>TMANE SELECT
NP_000317.1:p.Arg64Ter
NC_000015.9:g.89760507G>A
NM_000326.4:c.190C>T

Protein change:

R64*

Links:

dbSNP: rs561618945

NCBI 1000 Genomes Browser:

rs561618945

Molecular consequence:

NM_000326.5:c.190C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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
SCV001398575	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 19, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 2392416, 11301032, 21447491, 25429852, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001398575

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 19, 2023)

germline

clinical testing

PubMed (5)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Non-steroidal anti-inflammatories.

Hynes D.

Practitioner. 1990 Jun 8;234(1490):620-3. No abstract available.

PubMed [citation]

PMID:: 2392416

Visual cycle impairment in cellular retinaldehyde binding protein (CRALBP) knockout mice results in delayed dark adaptation.

Saari JC, Nawrot M, Kennedy BN, Garwin GG, Hurley JB, Huang J, Possin DE, Crabb JW.

Neuron. 2001 Mar;29(3):739-48.

PubMed [citation]

PMID:: 11301032

See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001398575.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

This sequence change creates a premature translational stop signal (p.Arg64*) in the RLBP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RLBP1 are known to be pathogenic (PMID: 2392416, 11301032, 21447491, 25429852). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RLBP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 865948). For these reasons, this variant has been classified as Pathogenic.

#	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