VCV000099114.56 - ClinVar

NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)

Germline

Classification

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

Pathogenic/Likely pathogenic

11 out of 18 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.2041C>T (p.Arg681Ter)

Variation ID: 99114 Accession: VCV000099114.56

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 1p22.1 1: 94060656 (GRCh38) [ NCBI UCSC ] 1: 94526212 (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	Nov 19, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_000350.3:c.2041C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000341.2:p.Arg681Ter	nonsense
NM_001425324.1:c.2041C>T	NP_001412253.1:p.Arg681Ter	nonsense
NC_000001.11:g.94060656G>A
NC_000001.10:g.94526212G>A
NG_009073.1:g.65494C>T
NG_009073.2:g.65492C>T

... more HGVS ... less HGVS

Protein change

R681*

Other names

Canonical SPDI

NC_000001.11:94060655: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.

0.00020 (T)

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

Trans-Omics for Precision Medicine (TOPMed) 0.00002

Links

ClinGen: CA226973 dbSNP: rs61749423 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.
not provided	Pathogenic (8)	criteria provided, multiple submitters, no conflicts	Nov 19, 2024	RCV000085458.47
Benign concentric annular macular dystrophy	Likely pathogenic (1)	no assertion criteria provided	Jan 19, 2015	RCV000210310.3
Severe early-childhood-onset retinal dystrophy	Pathogenic/Likely pathogenic (2)	criteria provided, multiple submitters, no conflicts	Jan 30, 2021	RCV000408512.4
Leber congenital amaurosis	Pathogenic (1)	no assertion criteria provided	Jan 1, 2015	RCV000504983.3
Retinal dystrophy	Pathogenic (2)	criteria provided, multiple submitters, no conflicts	Jan 1, 2022	RCV001073628.4
Age related macular degeneration 2	Pathogenic (1)	criteria provided, single submitter	Aug 21, 2019	RCV001195987.4
Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy	Pathogenic (1)	criteria provided, single submitter	Mar 27, 2024	RCV005025147.1
ABCA4-related disorder	Pathogenic (1)	no assertion criteria provided	Sep 11, 2024	RCV004732663.1
Stargardt disease 3	Pathogenic (1)	no assertion criteria provided	-	RCV004558307.1

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.
Pathogenic (Jan 01, 2016) C Contributing to aggregate classification	criteria provided, single submitter (Schulz et al. (Invest Ophthalmol Vis Sci. 2017)) Method: clinical testing	Severe early-childhood-onset retinal dystrophy Affected status: yes Allele origin: germline	Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg Accession: SCV000281841.2 First in ClinVar: Dec 07, 2016 Last updated: Dec 07, 2016	Publications: PubMed (7) PubMed: 28118664‚ 10090887‚ 24713488‚ 24342785‚ 19074458‚ 25544989‚ 25525159 Indication for testing: Stargardt disease 1 Zygosity: Single Heterozygote

Pathogenic (Jul 20, 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: SCV001239179.1 First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 Comment: My Retina Tracker patient

Pathogenic (Aug 21, 2019) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Age related macular degeneration 2 Affected status: yes Allele origin: unknown	Centre for Mendelian Genomics, University Medical Centre Ljubljana Accession: SCV001366414.2 First in ClinVar: Jul 04, 2020 Last updated: Dec 12, 2020	Comment: This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3,PP5.

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: SCV000490370.4 First in ClinVar: Feb 20, 2014 Last updated: Mar 04, 2023	Comment: Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more) Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 25544989, 28041643, 28118664, 26872967, 24342785, 24713488, 14517951, 10090887, 29555955, 29925512, 29736279, 28559085, 19074458) (less)

Pathogenic (Nov 09, 2023) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Revvity Omics, Revvity Accession: SCV003812951.2 First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024

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: SCV005073414.1 First in ClinVar: Dec 28, 2024 Last updated: Dec 28, 2024	Publications: PubMed (21) PubMed: 10090887‚ 19074458‚ 24342785‚ 24713488‚ 25544989‚ 25525159‚ 28041643‚ 28559085‚ 29555955‚ 29736279‚ 31589614‚ 29925512‚ 32619608‚ 31964843‚ 31429209‚ 32307445‚ 32036094‚ 32531858‚ 35119454‚ 36460718‚ 36819107

Pathogenic (Mar 27, 2024) 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 Explanation for multiple conditions: Uncertain. The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases. Affected status: unknown Allele origin: germline	Fulgent Genetics, Fulgent Genetics Accession: SCV005661350.1 First in ClinVar: Jan 25, 2025 Last updated: Jan 25, 2025

Pathogenic (Jun 17, 2021) 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: SCV001761996.2 First in ClinVar: Jul 30, 2021 Last updated: Apr 13, 2025	Clinical Features: Cone-rod dystrophy (present) Sex: male

Pathogenic (Jul 01, 2020) 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: SCV001245781.31 First in ClinVar: May 09, 2020 Last updated: Jun 22, 2025	Number of individuals with the variant: 3

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: SCV001548009.1 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 (Nov 19, 2024) 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: SCV001393043.6 First in ClinVar: Jul 16, 2020 Last updated: Feb 25, 2025	Publications: PubMed (8) PubMed: 10958761‚ 24938718‚ 25312043‚ 26780318‚ 10090887‚ 25544989‚ 28041643‚ 28559085 Comment: This sequence change creates a premature translational stop signal (p.Arg681) in the ABCA4 gene. It is expected to result in an absent or disrupted protein … (more) This sequence change creates a premature translational stop signal (p.Arg681) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). This variant is present in population databases (rs61749423, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with retinal disease (PMID: 10090887, 25544989, 28041643, 28559085). 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: 99114). For these reasons, this variant has been classified as Pathogenic. (less)

Likely pathogenic (Jan 19, 2015) N Not contributing to aggregate classification	no assertion criteria provided Method: clinical testing	Bull's eye maculopathy Affected status: yes Allele origin: germline	Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals Accession: SCV000259074.1 First in ClinVar: Mar 25, 2016 Last updated: Mar 25, 2016	Publications: PubMed (1) PubMed: 26872967

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: SCV001922875.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021

Pathogenic (-) N Not contributing to aggregate classification	no assertion criteria provided Method: research	Stargardt disease 3 (Autosomal recessive inheritance) Affected status: yes Allele origin: germline	Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana Accession: SCV005046941.1 First in ClinVar: Jun 09, 2024 Last updated: Jun 09, 2024	Publications: PubMed (1) PubMed: 24342785

Pathogenic (Jan 01, 2015) N Not contributing to aggregate classification	no assertion criteria provided Method: research	Leber congenital amaurosis Affected status: yes Allele origin: unknown	NIHR Bioresource Rare Diseases, University of Cambridge Accession: SCV000598948.2 First in ClinVar: Sep 09, 2017 Last updated: Apr 13, 2025	Publications: PubMed (2) PubMed: 28041643‚ 10090887 Number of individuals with the variant: 1 Sex: male Ethnicity/Population group: NA Platform type: Whole Exome Sequencing

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: SCV001954765.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021

Pathogenic (Sep 11, 2024) N Not contributing to aggregate classification	no assertion criteria provided Method: clinical testing	ABCA4-related condition Affected status: unknown Allele origin: germline	PreventionGenetics, part of Exact Sciences Accession: SCV005360403.1 First in ClinVar: Oct 08, 2024 Last updated: Oct 08, 2024	Comment: The ABCA4 c.2041C>T variant is predicted to result in premature protein termination (p.Arg681). This variant has been reported in multiple individuals with ABCA4-associated disease (see … (more) The ABCA4 c.2041C>T variant is predicted to result in premature protein termination (p.Arg681). This variant has been reported in multiple individuals with ABCA4-associated disease (see for example, Maugeri et al. 1999. PubMed ID: 10090887; Chouchene et al. 2013. PubMed ID: 24342785; Table S2, Del Pozo-Valero et al. 2020. PubMed ID: 32619608; Briggs et al. 2001. PubMed ID: 11527935; Supplementary tables, Holtan et al. 2020. PubMed ID: 31429209; Table S1, Schlottmann et al. 2023. PubMed ID: 37217489; Table S2, Carss et al. 2016. PubMed ID: 28041643). Nonsense variants in ABCA4 are expected to be pathogenic. This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD. This variant is interpreted as pathogenic. (less)

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: SCV000117595.1 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.2041C>T

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Comment:

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 25544989, 28041643, 28118664, 26872967, 24342785, 24713488, 14517951, 10090887, 29555955, 29925512, 29736279, 28559085, 19074458)

Comment:

This sequence change creates a premature translational stop signal (p.Arg681*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). This variant is present in population databases (rs61749423, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with retinal disease (PMID: 10090887, 25544989, 28041643, 28559085). 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: 99114). For these reasons, this variant has been classified as Pathogenic.

Comment:

The ABCA4 c.2041C>T variant is predicted to result in premature protein termination (p.Arg681*). This variant has been reported in multiple individuals with ABCA4-associated disease (see for example, Maugeri et al. 1999. PubMed ID: 10090887; Chouchene et al. 2013. PubMed ID: 24342785; Table S2, Del Pozo-Valero et al. 2020. PubMed ID: 32619608; Briggs et al. 2001. PubMed ID: 11527935; Supplementary tables, Holtan et al. 2020. PubMed ID: 31429209; Table S1, Schlottmann et al. 2023. PubMed ID: 37217489; Table S2, Carss et al. 2016. PubMed ID: 28041643). Nonsense variants in ABCA4 are expected to be pathogenic. This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD. This variant is interpreted as pathogenic.

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
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.	Panneman DM	Frontiers in cell and developmental biology	2023	PMID: 36819107
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
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
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.	Maggi J	International journal of molecular sciences	2021	PMID: 33546218
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
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
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
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
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
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
Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations.	Falfoul Y	Journal of ophthalmology	2018	PMID: 29736279
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
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
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
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.	Ellingford JM	Ophthalmology	2016	PMID: 26872967
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.	Jiang F	Investigative ophthalmology & visual science	2016	PMID: 26780318
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.	Xiong HY	Science (New York, N.Y.)	2015	PMID: 25525159
Clinical and molecular characteristics of childhood-onset Stargardt disease.	Fujinami K	Ophthalmology	2015	PMID: 25312043
Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.	González-del Pozo M	PloS one	2014	PMID: 25544989
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.	Xu Y	Human genetics	2014	PMID: 24938718
Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.	Bertelsen M	Investigative ophthalmology & visual science	2014	PMID: 24713488
[Clinical characterization of the Stargardt disease and molecular exploration of the c.2041C>T mutation (ABCA4 gene) in Tunisian patients].	Chouchene I	Annales de biologie clinique	2013	PMID: 24342785
ABCA4 disease progression and a proposed strategy for gene therapy.	Cideciyan AV	Human molecular genetics	2009	PMID: 19074458
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.	Maugeri A	American journal of human genetics	2000	PMID: 10958761
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.	Maugeri A	American journal of human genetics	1999	PMID: 10090887
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Text-mined citations for rs61749423 ...

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.2041C>T (p.Arg681Ter)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs61749423 ...