NM_000030.3(AGXT):c.547G>A (p.Asp183Asn) AND Primary hyperoxaluria, type I

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Mar 11, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000186317.12

Allele description [Variation Report for NM_000030.3(AGXT):c.547G>A (p.Asp183Asn)]

NM_000030.3(AGXT):c.547G>A (p.Asp183Asn)

Gene:

AGXT:alanine--glyoxylate aminotransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

Preferred name:

NM_000030.3(AGXT):c.547G>A (p.Asp183Asn)

HGVS:

NC_000002.12:g.240873001G>A
NG_008005.1:g.9257G>A
NM_000030.3:c.547G>AMANE SELECT
NP_000021.1:p.Asp183Asn
NP_000021.1:p.Asp183Asn
NC_000002.11:g.241812418G>A
NM_000030.2:c.547G>A
P21549:p.Asp183Asn

Protein change:

D183N

Links:

UniProtKB: P21549#VAR_010973; dbSNP: rs180177236

NCBI 1000 Genomes Browser:

rs180177236

Molecular consequence:

NM_000030.3:c.547G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Primary hyperoxaluria, type I (HP1)
Synonyms:: GLYCOLIC ACIDURIA; HEPATIC AGT DEFICIENCY; OXALOSIS I; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009823; MedGen: C0268164; Orphanet: 416; Orphanet: 93598; OMIM: 259900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000239654	Clinical Biochemistry Laboratory, Health Services Laboratory	no assertion criteria provided	Pathogenic (Nov 27, 2014)	germline	in vitro	PubMed (2) [See all records that cite these PMIDs] 10862087, 16971151 Citation Link,
SCV002808730	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 11, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000239654

Clinical Biochemistry Laboratory, Health Services Laboratory

no assertion criteria provided

Pathogenic
(Nov 27, 2014)

germline

in vitro

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV002808730

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 11, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	in vitro
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of 5 novel mutations in the AGXT gene.

Basmaison O, Rolland MO, Cochat P, Bozon D.

Hum Mutat. 2000 Jun;15(6):577.

PubMed [citation]

PMID:: 10862087

Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations.

Coulter-Mackie MB, Lian Q.

Mol Genet Metab. 2006 Dec;89(4):349-59. Epub 2006 Sep 12.

PubMed [citation]

PMID:: 16971151

See all PubMed Citations (3)

Details of each submission

From Clinical Biochemistry Laboratory, Health Services Laboratory, SCV000239654.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	in vitro	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Fulgent Genetics, Fulgent Genetics, SCV002808730.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 14, 2025

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