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NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jul 4, 2021)
Last evaluated:
Feb 1, 2020
Accession:
VCV000099107.7
Variation ID:
99107
Description:
single nucleotide variant
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NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)

Allele ID
104996
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p22.1
Genomic location
1: 94111546 (GRCh38) GRCh38 UCSC
1: 94577102 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P78363:p.Gly65Glu
NC_000001.10:g.94577102C>T
NC_000001.11:g.94111546C>T
... more HGVS
Protein change
G65E
Other names
-
Canonical SPDI
NC_000001.11:94111545:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
UniProtKB: P78363#VAR_008401
dbSNP: rs62654395
ClinGen: CA226964
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Feb 1, 2020 RCV000085451.3
Likely pathogenic 2 criteria provided, single submitter Jan 1, 2016 RCV000132588.4
Pathogenic 1 criteria provided, single submitter Jul 23, 2019 RCV001074366.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABCA4 - - GRCh38
GRCh37
1939 1969

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 01, 2016)
criteria provided, single submitter
Method: clinical testing
Stargardt disease 1
Allele origin: germline
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg
Accession: SCV000281802.2
Submitted: (May 25, 2016)
Evidence details
Publications
PubMed (2)
Pathogenic
(Jul 23, 2019)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001239942.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Pathogenic
(Feb 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001247765.5
Submitted: (Jul 04, 2021)
Evidence details
pathogenic
(-)
no assertion criteria provided
Method: not provided
Stargardt disease 1
Allele origin: not provided
Department of Ophthalmology and Visual Sciences Kyoto University
Accession: SCV000172532.1
Submitted: (Jul 29, 2014)
Evidence details
Comment:
Converted during submission to Pathogenic.
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
Retina International
Accession: SCV000117588.1
Submitted: (Dec 20, 2012)
Comment:
http://phencode.bx.psu.edu/cgi-bin/phencode/phencode?build=hg19&id=RISN_ABCR:c.194G>A
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
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 Investigative ophthalmology & visual science 2017 PMID: 28118664
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. Fishman GA Archives of ophthalmology (Chicago, Ill. : 1960) 1999 PMID: 10206579

Text-mined citations for rs62654395...

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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 Sep 07, 2021