ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.823C>T (p.Pro275Ser) (rs62508691)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000672603 SCV000886622 pathogenic Phenylketonuria 2018-12-09 reviewed by expert panel curation The c.823C>T (p.Pro275Ser) variant in PAH is absent from all population databases, and is in the same codon as two other likely pathogenic variants. In silico algorithms agree on a damaging effect. It has been identified in trans with two independent pathogenic variants (R408W and c.669delC; PMID: 20123475, 24705691), and a defect in BH4 metabolism was excluded as a cause of elevated phenylalanine in multiple patients. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM3_strong, PM2, PP4_Moderate, PM5, PP3.
Counsyl RCV000672603 SCV000797720 likely pathogenic Phenylketonuria 2018-02-07 criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089114 SCV000119721 not provided not provided no assertion provided not provided

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