ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.746T>A (p.Leu249His)

dbSNP: rs62507338
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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 RCV002259595 SCV002540126 likely pathogenic Phenylketonuria 2020-11-13 reviewed by expert panel curation The c.746T>A (p.Leu249His) variant in PAH has been reported in 1 individual with mild PKU (PMID: 11360625). This variant is absent in population databases. This variant was detected with pathogenic variant p.R243Q (PMID: 16256386). Computational evidence supports a deleterious effect. Another missense change at the same amino acid (p.L249F) is interpreted as pathogenic by multiple submitters. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM5, PM3_supporting, PP3, PP4.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089077 SCV000119683 not provided not provided no assertion provided not provided

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