ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.1025C>T (p.Pro342Leu)

gnomAD frequency: 0.00001  dbSNP: rs779040832
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665974 SCV000790196 pathogenic Tyrosinemia type I 2017-03-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092619 SCV001249201 pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000665974 SCV001388298 pathogenic Tyrosinemia type I 2023-09-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 342 of the FAH protein (p.Pro342Leu). This variant is present in population databases (rs779040832, gnomAD 0.003%). This missense change has been observed in individual(s) with tyrosinemia type 1 (PMID: 8005583, 8829657, 9633815, 30414057). ClinVar contains an entry for this variant (Variation ID: 551024). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FAH protein function. Experimental studies have shown that this missense change affects FAH function (PMID: 8005583). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000665974 SCV001810421 pathogenic Tyrosinemia type I 2021-07-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000665974 SCV004195864 likely pathogenic Tyrosinemia type I 2023-10-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000665974 SCV002089846 pathogenic Tyrosinemia type I 2021-03-02 no assertion criteria provided clinical testing

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