Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)

Help
Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
10 (Most recent: Sep 25, 2021)
Last evaluated:
Apr 5, 2021
Accession:
VCV000236129.18
Variation ID:
236129
Description:
single nucleotide variant
Help

NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)

Allele ID
237651
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p22.1
Genomic location
1: 94014685 (GRCh38) GRCh38 UCSC
1: 94480241 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.94480241G>A
NC_000001.11:g.94014685G>A
NG_009073.1:g.111465C>T
NM_000350.3:c.5318C>T MANE Select NP_000341.2:p.Ala1773Val missense
Protein change
A1773V
Other names
-
Canonical SPDI
NC_000001.11:94014684:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00008
Exome Aggregation Consortium (ExAC) 0.00012
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA957302
dbSNP: rs760549861
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Jan 21, 2020 RCV000408555.3
Pathogenic 4 criteria provided, multiple submitters, no conflicts Apr 5, 2021 RCV000441041.7
Pathogenic 3 criteria provided, multiple submitters, no conflicts Jan 8, 2020 RCV000826133.3
Pathogenic 1 criteria provided, single submitter Aug 9, 2019 RCV001074401.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABCA4 - - GRCh38
GRCh37
2111 2141

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely 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: SCV000281922.2
Submitted: (May 25, 2016)
Evidence details
Publications
PubMed (5)
Pathogenic
(Sep 11, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001232188.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces alanine with valine at codon 1773 of the ABCA4 protein (p.Ala1773Val). The alanine residue is highly conserved and there is a … (more)
Pathogenic
(Apr 05, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000511907.4
Submitted: (Sep 25, 2021)
Evidence details
Comment:
Reported in multiple individuals with Stargardt disease from Mexico, suggesting a founder mutation effect (Chacon-Camacho et al., 2013; Lopez-Rubio et al., 2018); In silico analysis, … (more)
Pathogenic
(Jun 05, 2018)
criteria provided, single submitter
Method: clinical testing
Stargardt disease
(Autosomal recessive inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000967649.1
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (6)
Comment:
The p.Ala1773Val variant in ABCA4 has been reported in >10 individuals with Star gardt disease and/or retinal degeneration, including at least 3 compound heteroz ygotes … (more)
Pathogenic
(Aug 09, 2019)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001239981.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Pathogenic
(Jan 08, 2020)
criteria provided, single submitter
Method: clinical testing
Stargardt disease
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001337920.1
Submitted: (Apr 29, 2020)
Evidence details
Publications
PubMed (4)
Comment:
Variant summary: ABCA4 c.5318C>T (p.Ala1773Val) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging … (more)
Likely pathogenic
(Jan 21, 2020)
criteria provided, single submitter
Method: clinical testing
Stargardt disease 1
Allele origin: germline
Johns Hopkins Genomics, Johns Hopkins University
Accession: SCV001425338.1
Submitted: (May 28, 2020)
Evidence details
Publications
PubMed (6)
Pathogenic
(Feb 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
(Autosomal recessive inheritance)
Allele origin: germline
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001480104.1
Submitted: (Feb 01, 2021)
Evidence details
Pathogenic
(Sep 01, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001247607.6
Submitted: (Jul 04, 2021)
Evidence details
Likely pathogenic
(Jun 23, 2019)
no assertion criteria provided
Method: research
Stargardt disease
Allele origin: inherited
Sharon lab,Hadassah-Hebrew University Medical Center
Accession: SCV001160831.1
Submitted: (Jun 25, 2019)
Evidence details

Functional evidence

Help
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

Help
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
Retinal phenotypic characterization of patients with <i>ABCA4</i> retinopathydue to the homozygous p.Ala1773Val mutation. López-Rubio S Molecular vision 2018 PMID: 29422768
Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association. Biswas P Physiological genomics 2017 PMID: 28130426
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
Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy. Duncker T Ophthalmology 2015 PMID: 25283059
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Glöckle N European journal of human genetics : EJHG 2014 PMID: 23591405
ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation. Chacón-Camacho OF Experimental eye research 2013 PMID: 23419329
Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications. Downes SM Archives of ophthalmology (Chicago, Ill. : 1960) 2012 PMID: 23143460
Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations? Stenirri S Clinical chemistry and laboratory medicine 2008 PMID: 18652558

Text-mined citations for rs760549861...

Help
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 Oct 07, 2021