ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.308G>A (p.Gly103Asp)

dbSNP: rs2136701578
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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 RCV001941587 SCV002230614 pathogenic Phenylketonuria 2023-09-01 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with hyperphenylalaninemia (PMID: 31355225). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly103 amino acid residue in PAH. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17502162, 24368688). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 not expected to disrupt PAH protein function. ClinVar contains an entry for this variant (Variation ID: 1453858). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 103 of the PAH protein (p.Gly103Asp).

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