ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.832A>G (p.Thr278Ala)

dbSNP: rs62516156
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001789762 SCV002032221 likely pathogenic Phenylketonuria 2020-06-11 reviewed by expert panel curation The c.832A>G (p.Thr278Ala) variant in PAH has been reported in multiple individuals with PKU and MHP (BH4 deficiency excluded). (PMID: 26503515, 30050108). This variant is absent in population databases. This variant was detected in the homozygous state in 1 patient (confirmed by parental testing). Computational evidence supports a deleterious effect. Another variant at this same amino acid is interpreted as pathogenic (p.Thr278Ile). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM5, PM3_supporting PP3.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089122 SCV000119730 not provided not provided no assertion provided not provided

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