NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) AND Primary hyperoxaluria, type I

Clinical significance:Likely pathogenic (Last evaluated: Jul 19, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000169249.4

Allele description [Variation Report for NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)]

NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)

Gene:
AGXT:alanine--glyoxylate and serine--pyruvate aminotransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)
HGVS:
  • NC_000002.12:g.240869326T>C
  • NG_008005.1:g.5582T>C
  • NM_000030.3:c.322T>CMANE SELECT
  • NP_000021.1:p.Trp108Arg
  • NP_000021.1:p.Trp108Arg
  • NP_000021.1:p.Trp108Arg
  • NC_000002.11:g.241808743T>C
  • NM_000030.2:c.322T>C
  • P21549:p.Trp108Arg
Protein change:
W108R
Links:
UniProtKB: P21549#VAR_060549; dbSNP: rs180177197
NCBI 1000 Genomes Browser:
rs180177197
Molecular consequence:
  • NM_000030.3:c.322T>C - 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:
MedGen: C0268164; Orphanet: 416; Orphanet: 93598; OMIM: 259900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000220531Counsylcriteria provided, single submitter
Likely pathogenic
(Jul 19, 2014)
unknownliterature only

PubMed (11)
[See all records that cite these PMIDs]

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015),

Citation Link,

SCV000239625Clinical Biochemistry Laboratory,Health Services Laboratoryno assertion criteria providedPathogenic
(Nov 27, 2014)
germlinein vitro

PubMed (3)
[See all records that cite these PMIDs]

Citation Link,

SCV001456046Natera, Inc.no assertion criteria providedPathogenic
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedin vitro
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria.

Amoroso A, Pirulli D, Florian F, Puzzer D, Boniotto M, Crovella S, Zezlina S, Spanò A, Mazzola G, Savoldi S, Ferrettini C, Berutti S, Petrarulo M, Marangella M.

J Am Soc Nephrol. 2001 Oct;12(10):2072-2079. doi: 10.1681/ASN.V12102072.

PubMed [citation]
PMID:
11562405

Rapid profiling of disease alleles using a tunable reporter of protein misfolding.

Pittman AM, Lage MD, Poltoratsky V, Vrana JD, Paiardini A, Roncador A, Cellini B, Hughes RM, Tucker CL.

Genetics. 2012 Nov;192(3):831-42. doi: 10.1534/genetics.112.143750. Epub 2012 Aug 24.

PubMed [citation]
PMID:
22923379
PMCID:
PMC3522161
See all PubMed Citations (11)

Details of each submission

From Counsyl, SCV000220531.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (11)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Clinical Biochemistry Laboratory,Health Services Laboratory, SCV000239625.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vitro PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV001456046.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 12, 2021

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