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NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser) AND Severe early-childhood-onset retinal dystrophy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2016
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:
RCV000408487.3

Allele description [Variation Report for NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser)]

NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser)

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.1789C>T (p.Pro597Ser)
HGVS:
  • NC_000001.11:g.94062725G>A
  • NG_009073.1:g.63425C>T
  • NG_009073.2:g.63423C>T
  • NM_000350.3:c.1789C>TMANE SELECT
  • NM_001425324.1:c.1789C>T
  • NP_000341.2:p.Pro597Ser
  • NP_001412253.1:p.Pro597Ser
  • NC_000001.10:g.94528281G>A
  • NM_000350.2:c.1789C>T
Protein change:
P597S
Links:
dbSNP: rs61751393
NCBI 1000 Genomes Browser:
rs61751393
Molecular consequence:
  • NM_000350.3:c.1789C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001425324.1:c.1789C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Severe early-childhood-onset retinal dystrophy (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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000281829Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg
criteria provided, single submitter

(Schulz et al. (Invest Ophthalmol Vis Sci. 2017))		Likely pathogenic
(Jan 1, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided335not providedclinical testing

Citations

PubMed

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.

Klevering BJ, Yzer S, Rohrschneider K, Zonneveld M, Allikmets R, van den Born LI, Maugeri A, Hoyng CB, Cremers FP.

Eur J Hum Genet. 2004 Dec;12(12):1024-32.

PubMed [citation]
PMID:
15494742

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, Grassmann F, Kellner U, Spital G, Rüther K, Jägle H, Hufendiek K, Rating P, Huchzermeyer C, Baier MJ, Weber BH, Stöhr H.

Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):394-403. doi: 10.1167/iovs.16-19936.

PubMed [citation]
PMID:
28118664
PMCID:
PMC5270621

Details of each submission

From Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg, SCV000281829.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes335not providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024