VCV000007896.2 - ClinVar

NM_000350.3(ABCA4):c.1018T>G (p.Tyr340Asp)

Germline

Classification

no assertion criteria provided. Learn more about how ClinVar calculates review status.

Pathogenic

1 out of 2 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.1018T>G (p.Tyr340Asp)

Variation ID: 7896 Accession: VCV000007896.2

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 1p22.1 1: 94080559 (GRCh38) [ NCBI UCSC ] 1: 94546115 (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	Jul 16, 2023	Feb 1, 2000

HGVS

Nucleotide	Protein	Molecular consequence
NM_000350.3:c.1018T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000341.2:p.Tyr340Asp	missense
NM_001425324.1:c.1018T>G	NP_001412253.1:p.Tyr340Asp	missense
NC_000001.11:g.94080559A>C
NC_000001.10:g.94546115A>C
NG_009073.1:g.45591T>G
NG_009073.2:g.45589T>G
	P78363:p.Tyr340Asp

... more HGVS ... less HGVS

Protein change

Y340D

Other names

Canonical SPDI

NC_000001.11:94080558:A:C

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.

Links

ClinGen: CA226860 UniProtKB: P78363#VAR_008410 OMIM: 601691.0018 dbSNP: rs61748548 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	4142	4539

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 (1)	no assertion criteria provided	Feb 1, 2000	RCV000008353.5
not provided	not provided (1)	no classification provided	-	RCV000085368.1

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.	Expand all rows Collapse all rows 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 (Feb 01, 2000) C Contributing to aggregate classification	no assertion criteria provided	STARGARDT DISEASE 1	OMIM Accession: SCV000028561.4 First in ClinVar: Apr 04, 2013 Last updated: Jul 16, 2023	Publications: PubMed (1) PubMed: 10746567 Observation: 1 Collection method: literature only Allele origin: germline Affected status: not provided more Observation 1 Collection method: literature only Allele origin: germline Affected status: not provided Comment on evidence: Shroyer et al. (2000) described a family showing pseudodominant inheritance of the autosomal recessive disorder Stargardt disease (STGD1; 248200). The mother had onset of symptoms … (more) Shroyer et al. (2000) described a family showing pseudodominant inheritance of the autosomal recessive disorder Stargardt disease (STGD1; 248200). The mother had onset of symptoms at the age of 30 years and had compound heterozygous mutations in the ABCA4 gene: a 1018T-G transversion, resulting in a tyr340-to-asp (Y340D) mutation, and a 5338C-G transversion, resulting in a pro1780-to-ala (P1780A) mutation (601691.0034). Her 3 children with Stargardt disease were compound heterozygous for the Y340D mutation, and a complex mutation consisting of G863A (601691.0001)/R572Q (601691.0022)/R943Q (601691.0035) inherited from the father. (less)

not provided (-) N Not contributing to aggregate classification	no classification provided	not provided	Retina International Accession: SCV000117505.1 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.1018T>G	Observation: 1 Collection method: not provided Allele origin: not provided Affected status: not provided Observation 1 Collection method: not provided Allele origin: not provided Affected status: not provided

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.	Shroyer NF	Human genetics	2000	PMID: 10746567

Text-mined citations for rs61748548 ...

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 Aug 16, 2025