ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.696C>T (p.Asn232=)

gnomAD frequency: 0.00002  dbSNP: rs533540262
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000666812 SCV000955948 pathogenic Tyrosinemia type I 2024-07-24 criteria provided, single submitter clinical testing This sequence change affects codon 232 of the FAH mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FAH protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or altered protein product. This variant is present in population databases (rs533540262, gnomAD 0.005%). This variant has been observed in individual(s) with tyrosinemia, type 1 (PMID: 8557261; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 551686). Studies have shown that this variant results in out-of-frame skipping of exon 8, and produces a non-functional protein and/or introduces a premature termination codon (PMID: 8557261). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000666812 SCV002519696 pathogenic Tyrosinemia type I 2022-05-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV000666812 SCV004195884 likely pathogenic Tyrosinemia type I 2023-08-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000666812 SCV005635330 likely pathogenic Tyrosinemia type I 2024-06-17 criteria provided, single submitter clinical testing
Counsyl RCV000666812 SCV000791169 uncertain significance Tyrosinemia type I 2017-05-01 flagged submission clinical testing

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