NM_000350.3(ABCA4):c.1891G>A (p.Gly631Arg) 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:: RCV000408594.2

Allele description [Variation Report for NM_000350.3(ABCA4):c.1891G>A (p.Gly631Arg)]

NM_000350.3(ABCA4):c.1891G>A (p.Gly631Arg)

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.1891G>A (p.Gly631Arg)

HGVS:

NC_000001.11:g.94062623C>T
NG_009073.1:g.63527G>A
NG_009073.2:g.63525G>A
NM_000350.3:c.1891G>AMANE SELECT
NM_001425324.1:c.1891G>A
NP_000341.2:p.Gly631Arg
NP_001412253.1:p.Gly631Arg
NC_000001.10:g.94528179C>T
NM_000350.2:c.1891G>A

Protein change:

G631R

Links:

dbSNP: rs886044730

NCBI 1000 Genomes Browser:

rs886044730

Molecular consequence:

NM_000350.3:c.1891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001425324.1:c.1891G>A - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000281834	Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	criteria provided, single submitter (Schulz et al. (Invest Ophthalmol Vis Sci. 2017))	Likely pathogenic (Jan 1, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000281834

Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

criteria provided, single submitter

(Schulz et al. (Invest Ophthalmol Vis Sci. 2017))

Likely pathogenic
(Jan 1, 2016)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	335	not provided	clinical testing

Citations

PubMed

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, SCV000281834.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	335	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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