NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) AND Stargardt disease 1

Clinical significance:Pathogenic (Last evaluated: Apr 8, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000408501.2

Allele description [Variation Report for NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)]

NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)

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.4222T>C (p.Trp1408Arg)
HGVS:
  • NC_000001.11:g.94031027A>G
  • NG_009073.1:g.95123T>C
  • NM_000350.3:c.4222T>CMANE SELECT
  • NP_000341.2:p.Trp1408Arg
  • NC_000001.10:g.94496583A>G
  • NM_000350.2:c.4222T>C
  • P78363:p.Trp1408Arg
Protein change:
W1408R
Links:
UniProtKB: P78363#VAR_008446; dbSNP: rs61750135
NCBI 1000 Genomes Browser:
rs61750135
Molecular consequence:
  • NM_000350.3:c.4222T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Stargardt disease 1 (STGD1)
Synonyms:
MACULAR DYSTROPHY WITH FLECKS, TYPE 1; STGD; Stargardt macular dystrophy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009549; MeSH: D000080362; MedGen: C1855465; Orphanet: 827; OMIM: 248200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000281881Institute of Human Genetics, Univ. Regensburg,Univ. Regensburgcriteria provided, single submitter
Pathogenic
(Jan 1, 2016)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV001573565Ocular Genomics Institute, Massachusetts Eye and Earcriteria provided, single submitter
Pathogenic
(Apr 8, 2021)
germlineresearch

PubMed (9)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided335not providedclinical testing, research

Citations

PubMed

Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

Fujinami K, Strauss RW, Chiang JP, Audo IS, Bernstein PS, Birch DG, Bomotti SM, Cideciyan AV, Ervin AM, Marino MJ, Sahel JA, Mohand-Said S, Sunness JS, Traboulsi EI, West S, Wojciechowski R, Zrenner E, Michaelides M, Scholl HPN; ProgStar Study Group.; ProgStar Study Group..

Br J Ophthalmol. 2019 Mar;103(3):390-397. doi: 10.1136/bjophthalmol-2018-312064. Epub 2018 Jun 20.

PubMed [citation]
PMID:
29925512
PMCID:
PMC6579578

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, Tucker BA.

Ophthalmology. 2017 Sep;124(9):1314-1331. doi: 10.1016/j.ophtha.2017.04.008. Epub 2017 May 27.

PubMed [citation]
PMID:
28559085
PMCID:
PMC5565704
See all PubMed Citations (9)

Details of each submission

From Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg, SCV000281881.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes335not providednot provided1not providednot providednot provided

From Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001573565.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (9)

Description

The ABCA4 c.4222T>C variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PP3, PS3, PM1, PM3-S. Based on this evidence we have classified this variant as Pathogenic.

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

Last Updated: Sep 7, 2021

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