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NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 13, 2021)
Last evaluated:
Aug 27, 2019
Accession:
VCV000623114.4
Variation ID:
623114
Description:
single nucleotide variant
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NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)

Allele ID
612115
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 153725859 (GRCh38) GRCh38 UCSC
X: 152991314 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.152991314C>T
NC_000023.11:g.153725859C>T
NM_000033.4:c.593C>T MANE Select NP_000024.2:p.Thr198Met missense
... more HGVS
Protein change
T198M
Other names
-
Canonical SPDI
NC_000023.11:153725858:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1569540704
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Aug 27, 2019 RCV000761214.4
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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
711 937

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 09, 2018)
criteria provided, single submitter
Method: clinical testing
Adrenoleukodystrophy
Allele origin: germline
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
Accession: SCV000891167.1
Submitted: (Nov 11, 2018)
Evidence details
Publications
PubMed (2)
Pathogenic
(Aug 27, 2019)
criteria provided, single submitter
Method: clinical testing
Adrenoleukodystrophy
Allele origin: germline
Invitae
Accession: SCV001373941.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces threonine with methionine at codon 198 of the ABCD1 protein (p.Thr198Met). The threonine residue is highly conserved and there is a … (more)
Pathogenic
(Jun 07, 2020)
no assertion criteria provided
Method: clinical testing
Adrenoleukodystrophy
Allele origin: germline
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City
Accession: SCV001469223.1
Submitted: (Jan 13, 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
A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy. Wiens K American journal of medical genetics. Part A 2019 PMID: 31074578
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. Wang Y Molecular genetics and metabolism 2011 PMID: 21700483
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Kemp S Human mutation 2001 PMID: 11748843

Text-mined citations for rs1569540704...

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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 Aug 27, 2021