ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.835C>G (p.Pro279Ala)

gnomAD frequency: 0.00001  dbSNP: rs1555204441
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551613 SCV000629218 pathogenic Phenylketonuria 2023-04-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Pro279 amino acid residue in PAH. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 21890392). 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 expected to disrupt PAH protein function. ClinVar contains an entry for this variant (Variation ID: 458081). This missense change has been observed in individual(s) with phenylketonuria (PKU) (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 279 of the PAH protein (p.Pro279Ala).
Baylor Genetics RCV000551613 SCV004209600 likely pathogenic Phenylketonuria 2023-09-03 criteria provided, single submitter clinical testing

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