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NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)

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Interpretation:
Pathogenic, other​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Apr 26, 2021)
Last evaluated:
Apr 8, 2021
Accession:
VCV000099260.6
Variation ID:
99260
Description:
single nucleotide variant
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NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)

Allele ID
105149
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p22.1
Genomic location
1: 94031027 (GRCh38) GRCh38 UCSC
1: 94496583 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.94496583A>G
NC_000001.11:g.94031027A>G
NG_009073.1:g.95123T>C
... more HGVS
Protein change
W1408R
Other names
-
Canonical SPDI
NC_000001.11:94031026:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA227166
UniProtKB: P78363#VAR_008446
dbSNP: rs61750135
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic, other 4 criteria provided, multiple submitters, no conflicts Jun 24, 2020 RCV000085613.5
Pathogenic 2 criteria provided, multiple submitters, no conflicts Apr 8, 2021 RCV000408501.2
Pathogenic 2 criteria provided, single submitter Jun 16, 2019 RCV000210333.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABCA4 - - GRCh38
GRCh37
1939 1969

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 01, 2016)
criteria provided, single submitter
Method: clinical testing
Stargardt disease 1
Allele origin: germline
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg
Accession: SCV000281881.2
Submitted: (May 25, 2016)
Evidence details
Publications
PubMed (5)
other
(Aug 31, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000339313.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Oct 04, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000321350.6
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The W1408R pathogenic variant in the ABCA4 gene has been reported previously in autosomal recessive Stargardt disease in affected individuals when in trans with another … (more)
Pathogenic
(Jun 16, 2019)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001239107.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Pathogenic
(Jun 24, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001230608.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces tryptophan with arginine at codon 1408 of the ABCA4 protein (p.Trp1408Arg). The tryptophan residue is highly conserved and there is a … (more)
Pathogenic
(Apr 08, 2021)
criteria provided, single submitter
Method: research
Stargardt disease 1
Allele origin: germline
Ocular Genomics Institute, Massachusetts Eye and Ear
Accession: SCV001573565.1
Submitted: (Apr 26, 2021)
Evidence details
Publications
PubMed (8)
Comment:
The ABCA4 c.4222T>C variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we … (more)
Pathogenic
(Jan 30, 2015)
no assertion criteria provided
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals
Accession: SCV000259104.1
Submitted: (Jan 21, 2016)
Evidence details
Publications
PubMed (1)
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
Retina International
Accession: SCV000117752.1
Submitted: (Dec 20, 2012)
Comment:
http://phencode.bx.psu.edu/cgi-bin/phencode/phencode?build=hg19&id=RISN_ABCR:c.4222T>C
Evidence details

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
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. Fujinami K The British journal of ophthalmology 2019 PMID: 29925512
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. Stone EM Ophthalmology 2017 PMID: 28559085
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. Schulz HL Investigative ophthalmology & visual science 2017 PMID: 28118664
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. Ellingford JM Ophthalmology 2016 PMID: 26872967
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. Alapati A Investigative ophthalmology & visual science 2014 PMID: 25082885
Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa. Shroyer NF Investigative ophthalmology & visual science 2001 PMID: 11687513
Biochemical defects in ABCR protein variants associated with human retinopathies. Sun H Nature genetics 2000 PMID: 11017087
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Lewis RA American journal of human genetics 1999 PMID: 9973280
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ABCA4 - - - -

Text-mined citations for rs61750135...

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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 Sep 07, 2021