ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.907T>G (p.Ser303Ala)

dbSNP: rs199475608
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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 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.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089152 SCV000119765 not provided not provided no assertion provided not provided

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