ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.438del (p.Asn146fs)

gnomAD frequency: 0.00001  dbSNP: rs779642226
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410205 SCV000485586 likely pathogenic Tyrosinemia type I 2016-01-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000410205 SCV004195896 likely pathogenic Tyrosinemia type I 2023-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000410205 SCV004650811 pathogenic Tyrosinemia type I 2023-12-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn146Lysfs*3) 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 present in population databases (rs779642226, gnomAD 0.007%). 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: 370316). For these reasons, this variant has been classified as Pathogenic.

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