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NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val) AND Stargardt disease

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 24, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003324515.3

Allele description [Variation Report for NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)]

NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)

Gene:
ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p22.1
Genomic location:
Preferred name:
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)
Other names:
NP_000341.2:p.(Leu2241Val)
HGVS:
  • NC_000001.11:g.93997869G>C
  • NG_009073.1:g.128281C>G
  • NG_009073.2:g.128279C>G
  • NM_000350.3:c.6721C>GMANE SELECT
  • NM_001425324.1:c.6499C>G
  • NP_000341.2:p.Leu2241Val
  • NP_001412253.1:p.Leu2167Val
  • NC_000001.10:g.94463425G>C
  • NM_000350.2:c.6721C>G
  • P78363:p.Leu2241Val
Protein change:
L2167V
Links:
UniProtKB: P78363#VAR_012616; dbSNP: rs61748521
NCBI 1000 Genomes Browser:
rs61748521
Molecular consequence:
  • NM_000350.3:c.6721C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001425324.1:c.6499C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Stargardt disease (FFM)
Synonyms:
Stargardt's disease; Fundus flavimaculatus
Identifiers:
MONDO: MONDO:0019353; MedGen: C0271093; Orphanet: 827

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004030357Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 24, 2023) 		germlineresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Citations

PubMed

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.

Peter VG, Kaminska K, Santos C, Quinodoz M, Cancellieri F, Cisarova K, Pescini Gobert R, Rodrigues R, Custódio S, Paris LP, Sousa AB, Coutinho Santos L, Rivolta C.

PNAS Nexus. 2023 Mar;2(3):pgad043. doi: 10.1093/pnasnexus/pgad043.

PubMed [citation]
PMID:
36909829
PMCID:
PMC10003751

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel, SCV004030357.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)

Description

Clinical significance based on ACMG v2.0

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024