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NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 23, 2021)
Last evaluated:
Sep 25, 2020
Accession:
VCV000218421.5
Variation ID:
218421
Description:
single nucleotide variant
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NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu)

Allele ID
215618
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 153740687 (GRCh38) GRCh38 UCSC
X: 153006141 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.153006141T>A
NC_000023.11:g.153740687T>A
NG_009022.2:g.20820T>A
... more HGVS
Protein change
V583E
Other names
-
Canonical SPDI
NC_000023.11:153740686:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00026 (C)

Allele frequency
-
Links
ClinGen: CA249353
dbSNP: rs79383557
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, single submitter Feb 13, 2015 RCV000203152.2
Benign 2 criteria provided, single submitter Sep 25, 2020 RCV000608121.2
Benign 1 criteria provided, single submitter Jun 16, 2016 RCV000716049.1
Likely benign 1 no assertion criteria provided - RCV001701707.1
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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
724 950

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 13, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
Accession: SCV000257602.2
Submitted: (Aug 10, 2015)
Evidence details
Benign
(Jun 16, 2016)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000846882.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Benign
(Sep 25, 2020)
criteria provided, single submitter
Method: clinical testing
Adrenoleukodystrophy
Allele origin: germline
Invitae
Accession: SCV001733190.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
Adrenoleukodystrophy
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000734761.1
Submitted: (Apr 04, 2018)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001920806.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001930442.1
Submitted: (Sep 23, 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs79383557...

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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 06, 2021