ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1117G>A (p.Ala373Thr)

dbSNP: rs62508717
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV002259583 SCV002540136 likely pathogenic Phenylketonuria 2022-06-12 reviewed by expert panel curation The c.1117G>A (p.Ala373Thr) variant in PAH has been reported in multiple individuals with mild HPA (BH4 deficiency excluded, PP4_Moderate). This variant is absent in population databases (PM2). This variant was detected with pathogenic variants c.442-1G>A (PMID: 10484807) and in trans with p.Arg261Gln (PMID: 29316886). Computational evidence is conflicting. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3.
Baylor Genetics RCV002259583 SCV005053840 likely pathogenic Phenylketonuria 2023-12-28 criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088762 SCV000119346 not provided not provided no assertion provided not provided

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