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NM_000137.4(FAH):c.726G>A (p.Trp242Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 17, 2019
Accession:
VCV000813490.3
Variation ID:
813490
Description:
single nucleotide variant
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NM_000137.4(FAH):c.726G>A (p.Trp242Ter)

Allele ID
801725
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q25.1
Genomic location
15: 80173033 (GRCh38) GRCh38 UCSC
15: 80465375 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001374380.1:c.726G>A NP_001361309.1:p.Trp242Ter nonsense
NC_000015.10:g.80173033G>A
NC_000015.9:g.80465375G>A
... more HGVS
Protein change
W242*
Other names
-
Canonical SPDI
NC_000015.10:80173032:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs1567118987
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Jun 17, 2019 RCV001004595.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FAH - - GRCh38
GRCh37
392 411

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Tyrosinemia type I
Allele origin: germline
Baylor Genetics
Accession: SCV001163758.1
Submitted: (Sep 27, 2019)
Evidence details
Pathogenic
(Jun 17, 2019)
criteria provided, single submitter
Method: clinical testing
Tyrosinemia type I
Allele origin: germline
Invitae
Accession: SCV001383319.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Trp242*) in the FAH gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1. Angileri F JIMD reports 2015 PMID: 25681080
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. Bergman AJ Human mutation 1998 PMID: 9633815
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview. St-Louis M Human mutation 1997 PMID: 9101289

Text-mined citations for rs1567118987...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021