ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.122T>C (p.Leu41Pro)

dbSNP: rs2041114940
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001874170 SCV002122715 pathogenic Tyrosinemia type I 2024-01-23 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 41 of the FAH protein (p.Leu41Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with tyrosinemia type 1 (Invitae). ClinVar contains an entry for this variant (Variation ID: 1354594). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FAH protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001874170 SCV004195903 likely pathogenic Tyrosinemia type I 2023-03-05 criteria provided, single submitter clinical testing

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