ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1172G>C (p.Ser391Thr)

dbSNP: rs869312997
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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 RCV000210788 SCV001370870 likely pathogenic Phenylketonuria 2020-03-07 reviewed by expert panel curation The c.1172G>C (p.Ser391Thr) variant in PAH has been reported in at least one individual with MHP (BH4 deficiency excluded, PMID: 30747360, 29499199) in trans with pathogenic variant p.Val399= (PMID: 29316886). This variant is absent in population databases. Computational evidence is conflicting. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3.
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital RCV000210788 SCV000266853 likely pathogenic Phenylketonuria 2013-10-01 no assertion criteria provided clinical testing

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