ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.82C>G (p.Pro28Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005011973 SCV005635304 uncertain significance Tyrosinemia type I 2024-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005011973 SCV005811909 uncertain significance Tyrosinemia type I 2024-10-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 28 of the FAH protein (p.Pro28Ala). This variant is present in population databases (rs746299576, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with FAH-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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