ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.1026G>A (p.Pro342=)

gnomAD frequency: 0.00005  dbSNP: rs748360797
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436331 SCV000529738 likely benign not specified 2016-07-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001501362 SCV001706170 likely benign Tyrosinemia type I 2024-02-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970198 SCV004778349 likely benign FAH-related disorder 2022-12-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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