NM_000137.3(FAH):c.398A>T (p.His133Leu) AND Tyrosinemia type I

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(1);Uncertain significance(1) (Last evaluated: Mar 26, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000673595.2

Allele description [Variation Report for NM_000137.3(FAH):c.398A>T (p.His133Leu)]

NM_000137.3(FAH):c.398A>T (p.His133Leu)

Gene:
FAH:fumarylacetoacetate hydrolase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q25.1
Genomic location:
Preferred name:
NM_000137.3(FAH):c.398A>T (p.His133Leu)
HGVS:
  • NC_000015.10:g.80162279A>T
  • NG_012833.1:g.14281A>T
  • NM_000137.3:c.398A>T
  • NP_000128.1:p.His133Leu
  • NC_000015.9:g.80454621A>T
  • NM_000137.2:c.398A>T
Protein change:
H133L
Links:
dbSNP: rs775152764
NCBI 1000 Genomes Browser:
rs775152764
Molecular consequence:
  • NM_000137.3:c.398A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Tyrosinemia type I (TYRSN1)
Synonyms:
Tyrosinemia type 1; Hepatorenal tyrosinemia; FAH deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010161; MedGen: C0268490; Orphanet: 882; OMIM: 276700

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000798818Counsylcriteria provided, single submitter
Uncertain significance
(Mar 26, 2018)
unknownclinical testing

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

Citation Link,

SCV001163752Baylor Geneticscriteria provided, single submitter
Likely pathogenicgermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Crystal structure and mechanism of a carbon-carbon bond hydrolase.

Timm DE, Mueller HA, Bhanumoorthy P, Harp JM, Bunick GJ.

Structure. 1999 Sep 15;7(9):1023-33.

PubMed [citation]
PMID:
10508789

Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome.

Couce ML, Dalmau J, del Toro M, Pintos-Morell G, Aldámiz-Echevarría L; Spanish Working Group on Tyrosinemia type 1..

Pediatr Int. 2011 Dec;53(6):985-9. doi: 10.1111/j.1442-200X.2011.03427.x.

PubMed [citation]
PMID:
21752152
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000798818.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV001163752.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

Support Center