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NM_000531.6(OTC):c.167T>C (p.Met56Thr)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jun 30, 2017)
Last evaluated:
Feb 2, 2017
Accession:
VCV000097125.2
Variation ID:
97125
Description:
single nucleotide variant
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NM_000531.6(OTC):c.167T>C (p.Met56Thr)

Allele ID
103017
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.4
Genomic location
X: 38367380 (GRCh38) GRCh38 UCSC
X: 38226633 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.38226633T>C
NC_000023.11:g.38367380T>C
NG_008471.1:g.19898T>C
... more HGVS
Protein change
M56T
Other names
-
Canonical SPDI
NC_000023.11:38367379:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA224487
UniProtKB: P00480#VAR_004855
dbSNP: rs72554320
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Feb 2, 2017 RCV000507068.2
Pathogenic 1 no assertion criteria provided - RCV000083354.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
OTC Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
585 741

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 02, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000604578.1
Submitted: (Jun 30, 2017)
Evidence details
pathogenic
(-)
no assertion criteria provided
Method: not provided
not provided
Allele origin: unknown
GenMed Metabolism Lab
Accession: SCV000115440.1
Submitted: (Feb 14, 2013)
Comment:
p.Met56Thr, Late
Evidence details
Comment:
Converted during submission to Pathogenic.

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
Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency. Tuchman M Journal of inherited metabolic disease 1997 PMID: 9266388

Text-mined citations for rs72554320...

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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 27, 2021