ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.506G>C (p.Arg169Pro) (rs199475679)

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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 RCV000515792 SCV001572876 uncertain significance Phenylketonuria 2021-03-26 reviewed by expert panel curation The c.506G>C (p.Arg169Pro) variant in PAH is reported as Likely Pathogenic by one clinical laboratory in ClinVar (see variant ID 446524); no further information is provided. At the time of review, the variant does not appear to be reported in the published literature and/or in the BioPKU database. The variant is predicted damaging by multiple lines of computational evidence (PP3). It is absent in gnomAD (PM2). Other missense variants at this site are pathogenic/likely pathogenic – p.Arg169Ser (variant ID 932262), p.Arg169His (variant ID 102706), p.Arg169Gly (variant ID 551103), and p.Arg169Cys (variant ID 125436) (PM5). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM5, PP3.
Medical Genetics Center,Academic Academic Center for Education, Culture and Research (ACECR), Khorasan Razavi RCV000515792 SCV000611630 likely pathogenic Phenylketonuria 2017-10-18 no assertion criteria provided clinical testing The mutation has been detected in compound heterozygous state with another pathogenic mutation (c.506G>C) in a 5 years old girl affected with PKU and was found in heterozygous in her father.

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