ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1315+2T>C (rs1799970)

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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, RCV000169029 SCV000886570 likely pathogenic Phenylketonuria 2018-12-09 reviewed by expert panel curation The c.1315+2T>C variant is at the 3' canonical splice site in the penultimate exon of PAH. It is absent form population databases and has been identified in trans with pathogenic variants in three independent patients (F39del, Y414C, and R261X; PMID: 9452062; 9521426). A defect of BH4 metabolism was excluded as a cause of elevated phenylalanine in all patients. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3_strong.
Counsyl RCV000169029 SCV000220178 likely pathogenic Phenylketonuria 2014-03-18 criteria provided, single submitter literature only
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088827 SCV000119419 not provided not provided no assertion provided not provided

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