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NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) AND Fumarylacetoacetase pseudodeficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 1994
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000012643.5

Allele description [Variation Report for NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)]

NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)

Gene:
FAH:fumarylacetoacetate hydrolase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q25.1
Genomic location:
Preferred name:
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)
HGVS:
  • NC_000015.10:g.80180184C>T
  • NG_012833.1:g.32186C>T
  • NM_000137.4:c.1021C>TMANE SELECT
  • NM_001374377.1:c.1021C>T
  • NM_001374380.1:c.1021C>T
  • NP_000128.1:p.Arg341Trp
  • NP_000128.1:p.Arg341Trp
  • NP_001361306.1:p.Arg341Trp
  • NP_001361309.1:p.Arg341Trp
  • NC_000015.9:g.80472526C>T
  • NM_000137.1:c.1021C>T
  • NM_000137.2:c.1021C>T
  • NM_000137.3:c.1021C>T
  • P16930:p.Arg341Trp
Protein change:
R341W; ARG341TRP
Links:
UniProtKB: P16930#VAR_005219; OMIM: 613871.0006; dbSNP: rs11555096
NCBI 1000 Genomes Browser:
rs11555096
Molecular consequence:
  • NM_000137.4:c.1021C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374377.1:c.1021C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374380.1:c.1021C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Fumarylacetoacetase pseudodeficiency
Identifiers:
MedGen: C4017342

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000032878OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 1994) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

Rootwelt H, Brodtkorb E, Kvittingen EA.

Am J Hum Genet. 1994 Dec;55(6):1122-7.

PubMed [citation]
PMID:
7977370
PMCID:
PMC1918441

Details of each submission

From OMIM, SCV000032878.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Rootwelt et al. (1994) found fumarylacetoacetase pseudodeficiency (see 276700) due to a C-to-T transition in nucleotide 1021 in the FAH gene, leading to an arg341-to-trp (R341W) substitution in 2.2% of FAH alleles among 516 healthy Norwegian volunteers.

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

Last Updated: Jan 13, 2025