NM_000539.3(RHO):c.403C>T (p.Arg135Trp) AND Retinitis pigmentosa

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Jul 24, 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:: RCV000132597.4

Allele description [Variation Report for NM_000539.3(RHO):c.403C>T (p.Arg135Trp)]

NM_000539.3(RHO):c.403C>T (p.Arg135Trp)

Gene:

RHO:rhodopsin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q22.1

Genomic location:

Preferred name:

NM_000539.3(RHO):c.403C>T (p.Arg135Trp)

Other names:

NP_000530.1:p.(Arg135Trp)

HGVS:

NC_000003.12:g.129530917C>T
NG_009115.1:g.7279C>T
NM_000539.3:c.403C>TMANE SELECT
NP_000530.1:p.Arg135Trp
NC_000003.11:g.129249760C>T
P08100:p.Arg135Trp

Protein change:

R135W; ARG135TRP

Links:

UniProtKB: P08100#VAR_004797; OMIM: 180380.0012; dbSNP: rs104893775

NCBI 1000 Genomes Browser:

rs104893775

Molecular consequence:

NM_000539.3:c.403C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinitis pigmentosa (RP)
Synonyms:: Tapetoretinal degeneration
Identifiers:: MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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SAMN09010966 (4)
SRA
MAG: ribose-phosphate pyrophosphokinase, partial [Candidatus Omnitrophica bacter...
MAG: ribose-phosphate pyrophosphokinase, partial [Candidatus Omnitrophica bacterium CG_4_9_14_0_2_um_filter_42_8]
gi|1278750146|gb|PJC47189.1||gnl|WG M|CO035_07025

Protein
cytochrome c oxidase subunit I, partial (mitochondrion) [Scolopsis vosmeri]
cytochrome c oxidase subunit I, partial (mitochondrion) [Scolopsis vosmeri]
gi|2645600815|gb|WRK27853.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000172544	Department of Ophthalmology and Visual Sciences Kyoto University	no assertion criteria provided	pathogenic	not provided	not provided
SCV000926670	Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet - VeluxRD	no assertion criteria provided	Pathogenic (Apr 1, 2018)	unknown	research	PubMed (1) [See all records that cite this PMID]
SCV001161242	Sharon lab, Hadassah-Hebrew University Medical Center	no assertion criteria provided	Pathogenic (Jun 23, 2019)	inherited	research
SCV004030293	Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 24, 2023)	germline	research	PubMed (2) [See all records that cite these PMIDs] 36909829, 25741868

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	research
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C, Fang M, Bertelsen M, Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T, Zhang J, Møller LB, Tümer Z, Brøndum-Nielsen K, Grønskov K.

Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.

PubMed [citation]

PMID:: 30718709
PMCID:: PMC6362094

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.

Peter VG, Kaminska K, Santos C, Quinodoz M, Cancellieri F, Cisarova K, Pescini Gobert R, Rodrigues R, Custódio S, Paris LP, Sousa AB, Coutinho Santos L, Rivolta C.

PNAS Nexus. 2023 Mar;2(3):pgad043. doi: 10.1093/pnasnexus/pgad043.

PubMed [citation]

PMID:: 36909829
PMCID:: PMC10003751

See all PubMed Citations (3)

Details of each submission

From Department of Ophthalmology and Visual Sciences Kyoto University, SCV000172544.1

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

Description

Converted during submission to Pathogenic.

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

From Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet - VeluxRD, SCV000926670.2

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

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

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161242.1

#	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 Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel, SCV004030293.1

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

Description

Clinical significance based on ACMG v2.0

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

Last Updated: Oct 20, 2024

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