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NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Nov 19, 2021)
Last evaluated:
Jun 8, 2018
Accession:
VCV000384589.4
Variation ID:
384589
Description:
single nucleotide variant
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NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)

Allele ID
378997
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 153726089 (GRCh38) GRCh38 UCSC
X: 152991544 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1017:g.6222C>T
LRG_1017t1:c.823C>T LRG_1017p1:p.Arg275Trp
NC_000023.10:g.152991544C>T
... more HGVS
Protein change
R275W
Other names
-
Canonical SPDI
NC_000023.11:153726088:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00003
Links
ClinGen: CA10550021
dbSNP: rs782083931
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Aug 3, 2017 RCV000434855.3
Uncertain significance 1 criteria provided, single submitter Mar 27, 2017 RCV000507685.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jun 8, 2018 RCV000695726.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABCD1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
738 964

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 27, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000602346.1
Submitted: (Jun 30, 2017)
Evidence details
Uncertain significance
(Jun 08, 2018)
criteria provided, single submitter
Method: clinical testing
Adrenoleukodystrophy
Allele origin: germline
Invitae
Accession: SCV000824241.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with tryptophan at codon 275 of the ABCD1 protein (p.Arg275Trp). The arginine residue is highly conserved and there is a … (more)
Likely pathogenic
(Sep 19, 2017)
criteria provided, single submitter
Method: clinical testing
Adrenoleukodystrophy
Allele origin: germline
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
Accession: SCV000891168.1
Submitted: (Nov 11, 2018)
Evidence details
Likely pathogenic
(Aug 03, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000525476.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R275W variant in the ABCD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This … (more)
Likely pathogenic
(Sep 16, 2021)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
PerkinElmer Genomics
Accession: SCV002023962.1
Submitted: (Nov 19, 2021)
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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs782083931...

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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 Nov 28, 2021