ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.743T>C (p.Leu248Pro)

dbSNP: rs62507340
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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 RCV002259593 SCV002540135 uncertain significance Phenylketonuria 2021-01-25 reviewed by expert panel curation This c.743T>C (p.Leu248Pro) variant in PAH was reported in 1 patient with PAH deficiency (>600 μmol/L Phe, PMID: 8807319). Computational evidence for this missense variant is predicted to be damaging (SIFT), probably damaging (PolyPhen2), and disease-causing (MutationTaster). This variant is absent from population databases ExAC, gnomAD, 1000 Genomes, and ESP. In summary, this variant meets criteria to be classified as a variant of uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3, PP4.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089074 SCV000119680 not provided not provided no assertion provided not provided

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