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NM_000274.3(OAT):c.722C>T (p.Pro241Leu)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 5, 2017)
Last evaluated:
Dec 26, 2016
Accession:
VCV000000168.1
Variation ID:
168
Description:
single nucleotide variant
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NM_000274.3(OAT):c.722C>T (p.Pro241Leu)

Allele ID
15207
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q26.13
Genomic location
10: 124403847 (GRCh38) GRCh38 UCSC
10: 126092416 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.126092416G>A
NC_000010.11:g.124403847G>A
LRG_685t1:c.722C>T LRG_685p1:p.Pro241Leu
... more HGVS
Protein change
P241L
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
dbSNP: rs121965051
UniProtKB: P04181#VAR_000573
OMIM: 613349.0025
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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 Dec 26, 2016 RCV000544798.1
Pathogenic 1 no assertion criteria provided Jun 1, 1992 RCV000000191.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
OAT - - GRCh38
GRCh37
107 152

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 26, 2016)
criteria provided, single submitter
Method: clinical testing
Gyrate atrophy
Allele origin: germline
Invitae
Accession: SCV000626801.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces proline with leucine at codon 241 of the OAT protein (p.Pro241Leu). The proline residue is highly conserved and there is a ... (more)
Pathogenic
(Jun 01, 1992)
no assertion criteria provided
Method: literature only
GYRATE ATROPHY OF CHOROID AND RETINA
Allele origin: germline
OMIM
Accession: SCV000020334.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene. Michaud J Genomics 1992 PMID: 1612597

Record last updated Mar 29, 2019