VCV000007898.62 - ClinVar

NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)

Germline

Classification

criteria provided, multiple submitters, no conflicts. Learn more about how ClinVar calculates review status.

Pathogenic/Likely pathogenic

14 out of 22 submissions contributed to this classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)

Variation ID: 7898 Accession: VCV000007898.62

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 1p22.1 1: 94098928 (GRCh38) [ NCBI UCSC ] 1: 94564484 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Feb 20, 2014	Jun 22, 2025	Feb 5, 2025

HGVS

Nucleotide	Protein	Molecular consequence
NM_000350.3:c.634C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000341.2:p.Arg212Cys	missense
NM_001425324.1:c.634C>T	NP_001412253.1:p.Arg212Cys	missense
NC_000001.11:g.94098928G>A
NC_000001.10:g.94564484G>A
NG_009073.1:g.27222C>T
NG_009073.2:g.27220C>T
	P78363:p.Arg212Cys

... more HGVS ... less HGVS

Protein change

R212C

Other names

Canonical SPDI

NC_000001.11:94098927:G:A

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

The Genome Aggregation Database (gnomAD) 0.00007

The Genome Aggregation Database (gnomAD) 0.00008

Trans-Omics for Precision Medicine (TOPMed) 0.00010

Exome Aggregation Consortium (ExAC) 0.00012

Links

ClinGen: CA203216 UniProtKB: P78363#VAR_008406 OMIM: 601691.0020 dbSNP: rs61750200 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
ABCA4		-	-	GRCh38 GRCh37	4050	4431

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Severe early-childhood-onset retinal dystrophy	Pathogenic/Likely pathogenic (6)	criteria provided, multiple submitters, no conflicts	Feb 5, 2025	RCV000008355.21
not provided	Pathogenic (9)	criteria provided, multiple submitters, no conflicts	Jan 13, 2025	RCV000085812.52
Cone-rod dystrophy 3	Likely pathogenic (1)	criteria provided, single submitter	Sep 6, 2017	RCV000179293.4
Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy	Pathogenic (1)	criteria provided, single submitter	Oct 31, 2018	RCV000763050.4
Stargardt disease	Pathogenic (2)	no assertion criteria provided	Jun 23, 2019	RCV000787521.3
Retinal dystrophy	Pathogenic (2)	criteria provided, multiple submitters, no conflicts	Jan 1, 2022	RCV001074780.5
Stargardt disease 3	Pathogenic (1)	no assertion criteria provided	-	RCV004558240.1

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Likely pathogenic (Sep 06, 2017) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Cone-rod dystrophy 3 Affected status: yes Allele origin: germline	Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota Accession: SCV000891271.1 First in ClinVar: Jun 28, 2015 Last updated: Jun 28, 2015	Publications: PubMed (4) PubMed: 9503029‚ 11385708‚ 9781034‚ 10711710 Number of individuals with the variant: 1

Pathogenic (Jun 23, 2019) C Contributing to aggregate classification	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme) Method: clinical testing	Retinal dystrophy Affected status: yes Allele origin: germline	Blueprint Genetics Accession: SCV001240376.1 First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 Comment: My Retina Tracker patient

Pathogenic (Mar 22, 2022) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Severe early-childhood-onset retinal dystrophy Affected status: yes Allele origin: germline	3billion Accession: SCV002318863.1 First in ClinVar: Apr 02, 2022 Last updated: Apr 02, 2022	Publications: PubMed (5) PubMed: 10711710‚ 26161775‚ 30093795‚ 29925512‚ 9503029 Comment: Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000007898, PMID:9503029). The variant … (more) Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000007898, PMID:9503029). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least 4 similarly affected unrelated individuals (PMID: 29925512, 30093795, 26161775) and it has been co-segregated with Stargardt disease 1 in multiple affected family members (PMID: 10711710). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.847>=0.6, 3CNET: 0.973>=0.75). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0001195). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. (less) Clinical Features: Abnormal retinal morphology (present) , Retinal dystrophy (present) Zygosity: Single Heterozygote Platform type: whole exome sequencing Platform name: NovaSeq

Pathogenic (May 11, 2020) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Not provided Affected status: yes Allele origin: germline	AiLife Diagnostics, AiLife Diagnostics Accession: SCV002503431.1 First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022	Publications: PubMed (11) PubMed: 9503029‚ 25082885‚ 29555955‚ 25283059‚ 29925512‚ 28224992‚ 30093795‚ 28559085‚ 22264887‚ 11385708‚ 11017087 Number of individuals with the variant: 1 Secondary finding: no Platform type: NGS

Pathogenic (Jan 01, 2022) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Retinal dystrophy Affected status: yes Allele origin: germline	Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg Accession: SCV005069622.1 First in ClinVar: Dec 28, 2024 Last updated: Dec 28, 2024	Publications: PubMed (30) PubMed: 9503029‚ 22264887‚ 25082885‚ 25283059‚ 28224992‚ 28559085‚ 29555955‚ 30093795‚ 31589614‚ 29925512‚ 32845050‚ 32619608‚ 32467599‚ 31964843‚ 31429209‚ 32307445‚ 32845068‚ 32036094‚ 31456290‚ 32581362‚ 32531858‚ 32141364‚ 34327195‚ 34426522‚ 33749171‚ 33851411‚ 35119454‚ 35260635‚ 36460718‚ 35076026

Pathogenic (Jan 13, 2025) C Contributing to aggregate classification	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV001203674.6 First in ClinVar: Apr 15, 2020 Last updated: Feb 25, 2025	Publications: PubMed (5) PubMed: 10458172‚ 10711710‚ 26161775‚ 29925512‚ 30093795 Comment: This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 212 of the ABCA4 protein … (more) This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 212 of the ABCA4 protein (p.Arg212Cys). This variant is present in population databases (rs61750200, gnomAD 0.05%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 10458172, 10711710, 26161775, 29925512, 30093795). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 7898). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ABCA4 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. (less)

Likely pathogenic (Feb 05, 2025) C Contributing to aggregate classification	criteria provided, single submitter (PRISM ACMG Classification Criteria) Method: clinical testing	Severe early-childhood-onset retinal dystrophy Affected status: yes Allele origin: germline	SingHealth Duke-NUS Institute of Precision Medicine Accession: SCV005881649.1 First in ClinVar: Mar 16, 2025 Last updated: Mar 16, 2025	Publications: PubMed (1) PubMed: 10711710 Comment: Variant is located in a mutational hotspot where >50% of variants are pathogenic (PM1). Homozygous allele count is less than 0 in gnomAD exomes and … (more) Variant is located in a mutational hotspot where >50% of variants are pathogenic (PM1). Homozygous allele count is less than 0 in gnomAD exomes and genomes (PM2). REVEL score is 0.847 (PP3_mod). Cosegregation with disease is observed in multiple families (PP1, PMID:10711710) (less)

Pathogenic (Oct 31, 2018) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3 Affected status: unknown Allele origin: unknown	Fulgent Genetics, Fulgent Genetics Accession: SCV000893531.1 First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019	Publications: PubMed (1) PubMed: 25741868 pmc: 4544753 pmc: 4544753 DOI: 10.1038/gim.2015.30 DOI: 10.1038/gim.2015.30

Likely pathogenic (Jan 30, 2021) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Severe early-childhood-onset retinal dystrophy Affected status: yes Allele origin: germline	Institute of Medical Molecular Genetics, University of Zurich Accession: SCV001548033.1 First in ClinVar: Mar 28, 2021 Last updated: Mar 28, 2021	Publications: PubMed (1) PubMed: 33546218 Test name: long-range PCR Platform type: next-gen sequencing Platform name: MiSeq Method: long-range PCR

Pathogenic (Apr 25, 2022) C Contributing to aggregate classification	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV000321329.9 First in ClinVar: Oct 09, 2016 Last updated: Mar 04, 2023	Comment: Published functional studies demonstrate a damaging effect with reduced protein expression and reduced ATP binding capacity (Sun et al., 2000; Curtis et al., 2020); In … (more) Published functional studies demonstrate a damaging effect with reduced protein expression and reduced ATP binding capacity (Sun et al., 2000; Curtis et al., 2020); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 10958761, 18977788, 22264887, 26909568, 25082829, 23891399, 28559085, 9503029, 9781034, 10711710, 11385708, 27014590, 27820952, 26161775, 15108289, 11726554, 19028736, 25082885, 25283059, 16546111, 29555955, 28224992, 25741868, 30093795, 10958763, 29925512, 32141364, 31766579, 30820146, 33851411, 31589614, 32619608, 34327195, 34426522, 32845068, 31456290, 32845050, 32467599, 32036094, 32581362, 11017087) (less)

Pathogenic (Feb 14, 2023) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Severe early-childhood-onset retinal dystrophy (Autosomal recessive inheritance) Affected status: yes Allele origin: germline	Neuberg Centre For Genomic Medicine, NCGM Accession: SCV004175841.1 First in ClinVar: Dec 17, 2023 Last updated: Dec 17, 2023

Pathogenic (Nov 30, 2016) C Contributing to aggregate classification	criteria provided, single submitter (EGL Classification Definitions 2015) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Eurofins Ntd Llc (ga) Accession: SCV000231518.6 First in ClinVar: Jun 28, 2015 Last updated: Apr 13, 2025	Publications: PubMed (4) PubMed: 10711710‚ 11385708‚ 9503029‚ 9781034 Other databases http://www.egl-eurofins.com/emvc… http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ABCA4 Number of individuals with the variant: 4 Zygosity: Homozygote, Single Heterozygote Sex: mixed

Pathogenic (Oct 23, 2020) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided (Autosomal recessive inheritance) Affected status: yes Allele origin: germline	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen Accession: SCV001447681.2 First in ClinVar: Nov 28, 2020 Last updated: Apr 13, 2025	Clinical Features: Cone-rod dystrophy (present) Sex: male

Pathogenic (May 01, 2018) C Contributing to aggregate classification	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2) Method: clinical testing	not provided Affected status: yes Allele origin: germline	CeGaT Center for Human Genetics Tuebingen Accession: SCV001247759.31 First in ClinVar: May 09, 2020 Last updated: Jun 22, 2025	Number of individuals with the variant: 2

Likely pathogenic (Sep 01, 2016) N Not contributing to aggregate classification	no assertion criteria provided Method: clinical testing	Severe early-childhood-onset retinal dystrophy Affected status: yes Allele origin: unknown	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ Accession: SCV000804586.2 First in ClinVar: Sep 10, 2018 Last updated: Sep 10, 2018	Number of individuals with the variant: 1

Pathogenic (Apr 01, 2018) N Not contributing to aggregate classification	no assertion criteria provided Method: research	Stargardt disease Affected status: yes Allele origin: unknown	Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet Study: VeluxRD Accession: SCV000926489.2 First in ClinVar: Jul 21, 2019 Last updated: Sep 03, 2023	Publications: PubMed (1) PubMed: 30718709

Pathogenic (Jun 23, 2019) N Not contributing to aggregate classification	no assertion criteria provided Method: research	Stargardt disease Affected status: yes Allele origin: inherited	Sharon lab, Hadassah-Hebrew University Medical Center Accession: SCV001160869.1 First in ClinVar: Feb 16, 2020 Last updated: Feb 16, 2020

Likely pathogenic (-) N Not contributing to aggregate classification	no assertion criteria provided Method: clinical testing	not provided Affected status: yes Allele origin: germline	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ Additional submitter: Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001951631.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021

Pathogenic (Jun 01, 2001) N Not contributing to aggregate classification	no assertion criteria provided Method: literature only	STARGARDT DISEASE 1 Affected status: not provided Allele origin: germline	OMIM Accession: SCV000028563.4 First in ClinVar: Apr 04, 2013 Last updated: Jul 16, 2023	Publications: PubMed (2) PubMed: 9503029‚ 11385708 Comment on evidence: In a patient with Stargardt disease (STGD1; 248200), Gerber et al. (1998) identified a heterozygous C-to-T transition at nucleotide 634 in the ABCA4 gene, resulting … (more) In a patient with Stargardt disease (STGD1; 248200), Gerber et al. (1998) identified a heterozygous C-to-T transition at nucleotide 634 in the ABCA4 gene, resulting in an arg212-to-cys substitution. The second mutation was not identified. Paloma et al. (2001) noted that the R212C mutation had been found in French, Italian, Dutch, German, and Spanish patients but not in British patients. (less)

Pathogenic (-) N Not contributing to aggregate classification	no assertion criteria provided Method: clinical testing	not provided Affected status: yes Allele origin: germline	Clinical Genetics, Academic Medical Center Additional submitter: Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001918385.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021

Pathogenic (-) N Not contributing to aggregate classification	no assertion criteria provided Method: research	Stargardt disease 3 (Autosomal recessive inheritance) Affected status: unknown Allele origin: germline	Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana Accession: SCV005046929.1 First in ClinVar: Jun 09, 2024 Last updated: Jun 09, 2024	Publications: PubMed (1) PubMed: 23769331

not provided (-) N Not contributing to aggregate classification	no classification provided Method: not provided	not provided Affected status: not provided Allele origin: not provided	Retina International Accession: SCV000117955.1 First in ClinVar: Feb 20, 2014 Last updated: Feb 20, 2014 Comment: http://phencode.bx.psu.edu/cgi-bin/phencode/phencode?build=hg19&id=RISN_ABCR:c.634C>T

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Comment:

Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000007898, PMID:9503029). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least 4 similarly affected unrelated individuals (PMID: 29925512, 30093795, 26161775) and it has been co-segregated with Stargardt disease 1 in multiple affected family members (PMID: 10711710). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.847>=0.6, 3CNET: 0.973>=0.75). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0001195). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

Comment:

This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 212 of the ABCA4 protein (p.Arg212Cys). This variant is present in population databases (rs61750200, gnomAD 0.05%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 10458172, 10711710, 26161775, 29925512, 30093795). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 7898). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ABCA4 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.

Comment:

Variant is located in a mutational hotspot where >50% of variants are pathogenic (PM1). Homozygous allele count is less than 0 in gnomAD exomes and genomes (PM2). REVEL score is 0.847 (PP3_mod). Cosegregation with disease is observed in multiple families (PP1, PMID:10711710)

Comment:

Published functional studies demonstrate a damaging effect with reduced protein expression and reduced ATP binding capacity (Sun et al., 2000; Curtis et al., 2020); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 10958761, 18977788, 22264887, 26909568, 25082829, 23891399, 28559085, 9503029, 9781034, 10711710, 11385708, 27014590, 27820952, 26161775, 15108289, 11726554, 19028736, 25082885, 25283059, 16546111, 29555955, 28224992, 25741868, 30093795, 10958763, 29925512, 32141364, 31766579, 30820146, 33851411, 31589614, 32619608, 34327195, 34426522, 32845068, 31456290, 32845050, 32467599, 32036094, 32581362, 11017087)

Germline Functional Evidence

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.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.	Karali M	Scientific reports	2022	PMID: 36460718
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.	Falsini B	Scientific reports	2022	PMID: 35260635
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.	Del Pozo-Valero M	Investigative ophthalmology & visual science	2022	PMID: 35119454
Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates.	Pfau M	JCI insight	2022	PMID: 35076026
The genetic structure of the Turkish population reveals high levels of variation and admixture.	Kars ME	Proceedings of the National Academy of Sciences of the United States of America	2021	PMID: 34426522
Updating the Genetic Landscape of Inherited Retinal Dystrophies.	García Bohórquez B	Frontiers in cell and developmental biology	2021	PMID: 34327195
Molecular genetics of inherited retinal degenerations in Icelandic patients.	Thorsteinsson DA	Clinical genetics	2021	PMID: 33851411
Panel-based genetic testing for inherited retinal disease screening 176 genes.	Sheck LHN	Molecular genetics & genomic medicine	2021	PMID: 33749171
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.	Maggi J	International journal of molecular sciences	2021	PMID: 33546218
Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1.	Liu X	American journal of medical genetics. Part C, Seminars in medical genetics	2020	PMID: 32845068
Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration.	Curtis SB	Human mutation	2020	PMID: 32845050
Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants.	Del Pozo-Valero M	American journal of ophthalmology	2020	PMID: 32619608
Whole-genome sequencing of patients with rare diseases in a national health system.	Turro E	Nature	2020	PMID: 32581362
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period.	Weisschuh N	Human mutation	2020	PMID: 32531858
The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate.	Green JS	European journal of human genetics : EJHG	2020	PMID: 32467599
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.	Khan M	Genetics in medicine : official journal of the American College of Medical Genetics	2020	PMID: 32307445
Genetic testing for inherited ocular conditions in a developing country.	Zanolli M	Ophthalmic genetics	2020	PMID: 32141364
Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies.	Rodríguez-Muñoz A	The Journal of molecular diagnostics : JMD	2020	PMID: 32036094
Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases.	Hanany M	Proceedings of the National Academy of Sciences of the United States of America	2020	PMID: 31964843
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).	Sharon D	Human mutation	2020	PMID: 31456290
Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge.	Holtan JP	Acta ophthalmologica	2020	PMID: 31429209
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.	Capalbo A	PLoS genetics	2019	PMID: 31589614
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.	Jespersgaard C	Scientific reports	2019	PMID: 30718709
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
Variants in the ABCA4 gene in a Brazilian population with Stargardt disease.	Salles MV	Molecular vision	2018	PMID: 30093795
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.	Birtel J	Scientific reports	2018	PMID: 29555955
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.	Stone EM	Ophthalmology	2017	PMID: 28559085
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.	Haer-Wigman L	European journal of human genetics : EJHG	2017	PMID: 28224992
Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis.	Xin W	PloS one	2015	PMID: 26161775
Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.	Duncker T	Ophthalmology	2015	PMID: 25283059
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
The clinical effect of homozygous ABCA4 alleles in 18 patients.	Fujinami K	Ophthalmology	2013	PMID: 23769331
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.	Thiadens AA	Ophthalmology	2012	PMID: 22264887
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.	Paloma E	Human mutation	2001	PMID: 11385708
Biochemical defects in ABCR protein variants associated with human retinopathies.	Sun H	Nature genetics	2000	PMID: 11017087
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.	Simonelli F	Investigative ophthalmology & visual science	2000	PMID: 10711710
Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study.	Souied EH	American journal of ophthalmology	1999	PMID: 10458172
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.	Rozet JM	European journal of human genetics : EJHG	1998	PMID: 9781034
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.	Gerber S	Genomics	1998	PMID: 9503029
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ABCA4	-	-	-	-
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Text-mined citations for rs61750200 ...

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 Jun 22, 2025

ClinVar Genomic variation as it relates to human health

NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs61750200 ...