ClinVar Miner

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

dbSNP: rs1567118987
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004595 SCV001163758 likely pathogenic Tyrosinemia type I criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001004595 SCV001383319 pathogenic Tyrosinemia type I 2023-07-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 product. Loss-of-function variants in FAH are known to be pathogenic (PMID: 9101289, 9633815). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with tyrosinemia, type 1 (PMID: 25681080). ClinVar contains an entry for this variant (Variation ID: 813490).
Fulgent Genetics, Fulgent Genetics RCV001004595 SCV005635336 likely pathogenic Tyrosinemia type I 2024-03-19 criteria provided, single submitter clinical testing

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