ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.293T>C (p.Leu98Ser) (rs62517167)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000675074 SCV000886557 uncertain significance Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.293T>C (p.Leu98Ser) variant in PAH has been reported in a Pakistani patient with non-PKU hyperphenylalaninemia (BH4 deficiency excluded) (PP4_Moderate; PMID: 8364546, 9634518) This variant is absent from 1000G and ESP, and has an extremely low frequency in ExAC and gnomAD (MAF=0.00016). A deleterious effect is predicted in SIFT, Polyphen-2, MutationTaster, and REVEL=0.846. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PP3.
Counsyl RCV000675074 SCV000800569 uncertain significance Phenylketonuria 2017-07-27 criteria provided, single submitter clinical testing
OMIM RCV000000659 SCV000020809 pathogenic Mild non-PKU hyperphenylalanemia 1993-07-01 no assertion criteria provided literature only
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088892 SCV000119490 not provided not provided no assertion provided not provided

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