ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.1014del (p.Gly337_Cys338insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002630829 SCV002968558 pathogenic Tyrosinemia type I 2024-04-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys338*) 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: 32832707). ClinVar contains an entry for this variant (Variation ID: 1926774). For these reasons, this variant has been classified as Pathogenic.

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