ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.14del (p.Pro5fs)

dbSNP: rs1057517341
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410365 SCV000487132 likely pathogenic Tyrosinemia type I 2016-10-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000410365 SCV004468784 pathogenic Tyrosinemia type I 2023-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro5Argfs*28) 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: 371526). For these reasons, this variant has been classified as Pathogenic.

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