ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.615dup (p.Val206fs)

dbSNP: rs1057517084
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207091 SCV001378430 pathogenic Tyrosinemia type I 2023-12-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val206Cysfs*18) 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 variant has not been reported in the literature in individuals affected with FAH-related conditions. ClinVar contains an entry for this variant (Variation ID: 937956). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV002249796 SCV002520054 pathogenic not provided 2021-11-15 criteria provided, single submitter clinical testing PM2, PM3, PVS1
Baylor Genetics RCV001207091 SCV004195874 likely pathogenic Tyrosinemia type I 2023-09-11 criteria provided, single submitter clinical testing

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