NM_020366.4(RPGRIP1):c.3793_3794insGAAA (p.Val1265fs) AND multiple conditions

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 20, 2020
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:: RCV001860574.5

Allele description

NM_020366.4(RPGRIP1):c.3793_3794insGAAA (p.Val1265fs)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_020366.4(RPGRIP1):c.3793_3794insGAAA (p.Val1265fs)

HGVS:

NC_000014.9:g.21351148_21351149insGAAA
NG_008933.1:g.68172_68173insGAAA
NG_009932.1:g.38118_38119insTTTC
NM_001377523.1:c.1771_1772insGAAA
NM_001377948.1:c.2719_2720insGAAA
NM_001377949.1:c.1879_1880insGAAA
NM_001377950.1:c.1771_1772insGAAA
NM_001377951.1:c.1276_1277insGAAA
NM_020366.4:c.3793_3794insGAAAMANE SELECT
NP_001364452.1:p.Val591fs
NP_001364877.1:p.Val907fs
NP_001364878.1:p.Val627fs
NP_001364879.1:p.Val591fs
NP_001364880.1:p.Val426fs
NP_065099.3:p.Val1265fs
NC_000014.8:g.21819307_21819308insGAAA
NC_000014.8:g.21819307_21819308insGAAA
p.Val1265GlyfsTer19

Protein change:

V1265fs

Links:

dbSNP: rs1468976582

NCBI 1000 Genomes Browser:

rs1468976582

Molecular consequence:

NM_001377523.1:c.1771_1772insGAAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001377948.1:c.2719_2720insGAAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001377949.1:c.1879_1880insGAAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001377950.1:c.1771_1772insGAAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001377951.1:c.1276_1277insGAAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_020366.4:c.3793_3794insGAAA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Cone-rod dystrophy 13 (CORD13)
Identifiers:: MONDO: MONDO:0011987; MedGen: C2750720; Orphanet: 1872; OMIM: 608194

Name:: Leber congenital amaurosis 6 (LCA6)
Identifiers:: MONDO: MONDO:0013446; MedGen: C1854260; Orphanet: 65; OMIM: 613826

Recent activity

Clear Turn Off Turn On

S-adenosyl-L-methionine-dependent methyltransferases superfamily protein [Arabid...
S-adenosyl-L-methionine-dependent methyltransferases superfamily protein [Arabidopsis thaliana]
gi|42571401|ref|NP_973791.1|

Protein

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
SCV002178552	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 20, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25412400, 30072743, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002178552

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 20, 2020)

germline

clinical testing

PubMed (3)
[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

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

Consugar MB, Navarro-Gomez D, Place EM, Bujakowska KM, Sousa ME, Fonseca-Kelly ZD, Taub DG, Janessian M, Wang DY, Au ED, Sims KB, Sweetser DA, Fulton AB, Liu Q, Wiggs JL, Gai X, Pierce EA.

Genet Med. 2015 Apr;17(4):253-261. doi: 10.1038/gim.2014.172. Epub 2014 Nov 20.

PubMed [citation]

PMID:: 25412400
PMCID:: PMC4572572

Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.

Jamshidi F, Place EM, Mehrotra S, Navarro-Gomez D, Maher M, Branham KE, Valkanas E, Cherry TJ, Lek M, MacArthur D, Pierce EA, Bujakowska KM.

Genet Med. 2019 Mar;21(3):694-704. doi: 10.1038/s41436-018-0104-7. Epub 2018 Aug 3.

PubMed [citation]

PMID:: 30072743
PMCID:: PMC6399075

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV002178552.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been observed in individual(s) with clinical features of Leber congenital amaurosis (PMID: 25412400, 30072743). ClinVar contains an entry for this variant (Variation ID: 814009). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val1265Glyfs*19) in the RPGRIP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 22 amino acid(s) of the RPGRIP1 protein.

#	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: Mar 30, 2024

ClinVar

Relating variation to medicine