NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) AND Leber congenital amaurosis

Germline classification:: Pathogenic (2 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:: RCV000504726.5

Allele description [Variation Report for NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)]

NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)

Gene:

RPGRIP1:RPGR interacting protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)

Other names:

NP_065099.3:p.(Arg981Ter)

HGVS:

NC_000014.9:g.21328469C>T
NG_008933.1:g.45493C>T
NM_001377523.1:c.919C>T
NM_001377948.1:c.1867C>T
NM_001377949.1:c.1027C>T
NM_001377950.1:c.919C>T
NM_001377951.1:c.421C>T
NM_020366.4:c.2941C>TMANE SELECT
NP_001364452.1:p.Arg307Ter
NP_001364877.1:p.Arg623Ter
NP_001364878.1:p.Arg343Ter
NP_001364879.1:p.Arg307Ter
NP_001364880.1:p.Arg141Ter
NP_065099.3:p.Arg981Ter
NP_065099.3:p.Arg981Ter
NC_000014.8:g.21796628C>T
NM_020366.3:c.2941C>T

Protein change:

R141*

Links:

dbSNP: rs780667159

Molecular consequence:

NM_001377523.1:c.919C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001377948.1:c.1867C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001377949.1:c.1027C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001377950.1:c.919C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001377951.1:c.421C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_020366.4:c.2941C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Leber congenital amaurosis (LCA)
Synonyms:: Leber's amaurosis
Identifiers:: MONDO: MONDO:0018998; MeSH: D057130; MedGen: C0339527; OMIM: PS204000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000599101	NIHR Bioresource Rare Diseases, University of Cambridge	no assertion criteria provided	Likely pathogenic (Jan 1, 2015)	unknown	research	PubMed (1) [See all records that cite this PMID]
SCV004030317	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

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000599101

NIHR Bioresource Rare Diseases, University of Cambridge

no assertion criteria provided

Likely pathogenic
(Jan 1, 2015)

unknown

research

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

SCV004030317

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]

Help

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
NA	unknown	yes	1	not provided	not provided	1	not provided	research

Citations

PubMed

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]

PMID:: 28041643
PMCID:: PMC5223092

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 NIHR Bioresource Rare Diseases, University of Cambridge, SCV000599101.2

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

From Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel, SCV004030317.2

#	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: Apr 12, 2026

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