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NM_152443.2(RDH12):c.806_810delCCCTG (p.Ala269Glyfs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Feb 1, 2019)
Last evaluated:
Aug 15, 2018
Accession:
VCV000002047.2
Variation ID:
2047
Description:
5bp deletion
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NM_152443.2(RDH12):c.806_810delCCCTG (p.Ala269Glyfs)

Allele ID
17086
Variant type
Deletion
Variant length
5 bp
Cytogenetic location
14q24.1
Genomic location
14: 67729338-67729342 (GRCh38) GRCh38 UCSC
14: 68196055-68196059 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.9:g.67729338_67729342delCCCTG
NC_000014.8:g.68196055_68196059delCCCTG
NM_152443.2:c.806_810delCCCTG NP_689656.2:p.Ala269Glyfs frameshift
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 608830.0002
dbSNP: rs386834261
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Sep 14, 2016 RCV000726539.1
RDH12-Related Disorders
Pathogenic 1 criteria provided, single submitter Aug 15, 2018 RCV000779141.1
Pathogenic 2 no assertion criteria provided May 2, 2013 RCV000002128.7
Pathogenic 1 no assertion criteria provided Jan 1, 2015 RCV000504734.1
Pathogenic 1 no assertion criteria provided Jan 1, 2015 RCV000504920.1
Pathogenic 1 no assertion criteria provided Sep 1, 2016 RCV000678608.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GPHN Some evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
72 142
RDH12 - - GRCh38
GRCh37
1 60
ZFYVE26 - - GRCh38
GRCh37
321 348

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 14, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000345340.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...
Pathogenic
(Aug 15, 2018)
criteria provided, single submitter
Method: clinical testing
RDH12-Related Disorders
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000915647.1
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (7)
Comment:
The RDH12 c.806_810delCCCTG (p.Ala269GlyfsTer2) variant results in a frameshift and is predicted to result in premature truncation of the protein. Across a selection of the ... (more)
Pathogenic
(Oct 01, 2004)
no assertion criteria provided
Method: literature only
LEBER CONGENITAL AMAUROSIS 13
Allele origin: germline
OMIM
Accession: SCV000022286.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)
pathologic
(May 02, 2013)
no assertion criteria provided
Method: curation
Leber Congenital Amaurosis
Allele origin: not provided
GeneReviews
Accession: SCV000087050.1
Submitted: (Apr 30, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Jan 01, 2015)
no assertion criteria provided
Method: research
Abnormality of the eye
Allele origin: unknown
NIHR Bioresource Rare Diseases,University of Cambridge
Accession: SCV000599187.1
Submitted: (Aug 18, 2017)
Evidence details
Publications
PubMed (2)
Comment:
Rare ocular disorder associated to additional undetermined phenotypes
Pathogenic
(Jan 01, 2015)
no assertion criteria provided
Method: research
Retinal dystrophy
Allele origin: unknown
NIHR Bioresource Rare Diseases,University of Cambridge
Accession: SCV000599188.1
Submitted: (Aug 18, 2017)
Evidence details
Publications
PubMed (2)
Pathogenic
(Sep 01, 2016)
no assertion criteria provided
Method: clinical testing
Retinitis pigmentosa
Allele origin: unknown
Human Genetics - Radboudumc,Radboudumc
Accession: SCV000804693.2
Submitted: (Sep 14, 2016)
Evidence details

Citations for this variant

Title Author Journal Year Link
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. Carss KJ American journal of human genetics 2017 PMID: 28041643
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. Ge Z Scientific reports 2015 PMID: 26667666
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. Boulanger-Scemama E Orphanet journal of rare diseases 2015 PMID: 26103963
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. Wang X Journal of medical genetics 2013 PMID: 23847139
Leber Congenital Amaurosis Weleber RG - 2013 PMID: 20301475
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. Coppieters F Human mutation 2010 PMID: 20683928
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations. Sun W Vision research 2007 PMID: 17512964
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Thompson DA Human molecular genetics 2005 PMID: 16269441
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. Perrault I American journal of human genetics 2004 PMID: 15322982
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Janecke AR Nature genetics 2004 PMID: 15258582
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=RDH12 - - - -

Record last updated May 27, 2019