ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1330C>T (p.Leu444Phe)

gnomAD frequency: 0.00001  dbSNP: rs1402168594
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666307 SCV000790578 uncertain significance Phenylketonuria 2017-03-29 criteria provided, single submitter clinical testing
Invitae RCV000666307 SCV003441213 pathogenic Phenylketonuria 2023-03-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: 551287). This missense change has been observed in individual(s) with hyperphenylalaninemia (PMID: 26600521). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 444 of the PAH protein (p.Leu444Phe).
Baylor Genetics RCV000666307 SCV004209699 likely pathogenic Phenylketonuria 2023-02-20 criteria provided, single submitter clinical testing

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