Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001543639 | SCV001762311 | likely pathogenic | Phenylketonuria | 2021-01-18 | reviewed by expert panel | curation | The c.907T>G (p.Ser303Ala) variant in PAH has been reported in 3 individuals with PAH deficiency (BH4 deficiency excluded). (PP4_Moderate; PMID: 23430859, 23500595, 24941924, 27121329). This variant is absent in population databases (PM2). This variant was detected in 2 patients in trans with p.G46S (PMID: 27121329) (this variant is Pathogenic in ClinVar by 5 submitters, ID G46S) and with c.673C>A p.(Pro225Thr) (PMID: 24941924, parental analysis not described) (this variant is Pathogenic in ClinVar by 4 submitters, ID 102779). Computational evidence predicts a deleterious effect. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM3_strong, PP4_Moderate, PM2, PP3. |
De |
RCV000089152 | SCV000119765 | not provided | not provided | no assertion provided | not provided |