U.S. flag

An official website of the United States government

NM_000030.3(AGXT):c.52C>T (p.Leu18Phe) AND Primary hyperoxaluria, type I

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 27, 2023
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:
RCV003468708.1

Allele description [Variation Report for NM_000030.3(AGXT):c.52C>T (p.Leu18Phe)]

NM_000030.3(AGXT):c.52C>T (p.Leu18Phe)

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.52C>T (p.Leu18Phe)
HGVS:
  • NC_000002.12:g.240868917C>T
  • NG_008005.1:g.5173C>T
  • NG_098313.1:g.675C>T
  • NM_000030.3:c.52C>TMANE SELECT
  • NP_000021.1:p.Leu18Phe
  • NC_000002.11:g.241808334C>T
  • NM_000030.2:c.52C>T
Protein change:
L18F
Molecular consequence:
  • NM_000030.3:c.52C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary hyperoxaluria, type I (HP1)
Synonyms:
OXALOSIS I; Primary hyperoxaluria type 1; Oxalosis 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009823; MedGen: C0268164; Orphanet: 416; Orphanet: 93598; OMIM: 259900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004217816Clinical Biochemistry Laboratory, Health Services Laboratory
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 27, 2023) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.

Isiyel E, Ezgu SA, Caliskan S, Akman S, Akil I, Tabel Y, Akinci N, Ozdogan EB, Ozel A, Eroglu FK, Ezgu FS.

Mol Genet Metab. 2016 Dec;119(4):311-316. doi: 10.1016/j.ymgme.2016.10.011. Epub 2016 Nov 1.

PubMed [citation]
PMID:
27915025

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Clinical Biochemistry Laboratory, Health Services Laboratory, SCV004217816.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

ACMG:PM2 PP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 30, 2023