ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.384G>A (p.Leu128=)

dbSNP: rs879012174
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003495790 SCV004315086 uncertain significance Phenylketonuria 2024-01-02 criteria provided, single submitter clinical testing This sequence change affects codon 128 of the PAH mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PAH protein. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has been observed in individual(s) with hyperphenylalaninemia (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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