ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.699C>A (p.Phe233Leu)

dbSNP: rs62517208
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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 RCV002259588 SCV002540172 pathogenic Phenylketonuria 2020-11-09 reviewed by expert panel curation The c.699C>A (p.Phe233Leu) variant in PAH has been reported in multiple individuals with PKU (BH4 deficiency excluded), detected in trans with pathogenic variants: p.S70del (PMID: 24705691); p.Ala403Val, p.Arg243Gln (PMID: 23500595). This variant is absent in population databases. Computational prediction tools and conservation analysis support a deleterious effect. Another variant at the same amino acid (p.F233I) is interpreted as pathogenic by the ClinGen PAH VCEP. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM3_strong, PM2, PM5, PP4_Moderate, PP3.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089041 SCV000119646 not provided not provided no assertion provided not provided

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