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NM_000539.3(RHO):c.563G>A (p.Gly188Glu)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 1, 2020
Accession:
VCV000811432.5
Variation ID:
811432
Description:
single nucleotide variant
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NM_000539.3(RHO):c.563G>A (p.Gly188Glu)

Allele ID
799312
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q22.1
Genomic location
3: 129532283 (GRCh38) GRCh38 UCSC
3: 129251126 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.129251126G>A
NC_000003.12:g.129532283G>A
NG_009115.1:g.8645G>A
NM_000539.3:c.563G>A MANE Select NP_000530.1:p.Gly188Glu missense
Protein change
G188E
Other names
-
Canonical SPDI
NC_000003.12:129532282:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs1424131846
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jun 3, 2019 RCV001001281.2
Pathogenic 1 criteria provided, single submitter Jan 17, 2020 RCV001041691.2
Likely pathogenic 1 criteria provided, single submitter Sep 1, 2020 RCV001265198.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RHO - - GRCh38
GRCh37
354 368

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 03, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001158457.1
Submitted: (Aug 05, 2019)
Evidence details
Comment:
The RHO c.563G>A, p.Gly188Glu variant (rs1424131846) is reported in the medical literature in individuals and families with autosomal dominant retinitis pigmentosa (Macke 2014, Van Cauwenbergh … (more)
Likely pathogenic
(Sep 01, 2020)
criteria provided, single submitter
Method: clinical testing
Retinitis pigmentosa 4
Allele origin: germline
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals
Accession: SCV001443234.1
Submitted: (Oct 28, 2020)
Evidence details
Pathogenic
(Jan 17, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001205320.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces glycine with glutamic acid at codon 188 of the RHO protein (p.Gly188Glu). The glycine residue is highly conserved and there is … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. Stone EM Ophthalmology 2017 PMID: 28559085
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families. Van Cauwenbergh C PloS one 2017 PMID: 28076437
Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. Macke JP American journal of human genetics 1993 PMID: 8317502
Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain. Sung CH The Journal of biological chemistry 1993 PMID: 8253795

Text-mined citations for rs1424131846...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 11, 2021