ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.110T>C (p.Leu37Pro) (rs869312996)

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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 RCV000210792 SCV000886606 likely pathogenic Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.110T>C (p.Leu37Pro) variant in PAH is reported in 1 patient with mild PKU. Assessment of BH4 deficiencies not reported. It was detected with a known pathogenic variant, p.R408W. (PMID: 24350308) This variant is absent from ExAC, gnomAD, 1000G, and ESP. A deleterious effect is predicted in SIFT, Polyphen-2, and MutationTaster. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PP4, PP3.
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital RCV000210792 SCV000266850 likely pathogenic Phenylketonuria 2013-10-01 no assertion criteria provided clinical testing

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