ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.168+1G>A (rs62514898)

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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, RCV000169163 SCV000886558 pathogenic Phenylketonuria 2018-12-09 reviewed by expert panel curation The c.168+1G>A variant in PAH is at a canonical splice site at intron 3, and is absent in all population databases. It has been identified in trans with a pathogenic variant (Ho, 2014), and as a homozygous variant (PMID: 18294361) in patients with phenylketonuria. Defects in BH4 metabolism were excluded as a cause of elevated phenylalanine in two patients (PMID: 24368688, 8807331). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PM3, PP4_Moderate.
Counsyl RCV000169163 SCV000220391 likely pathogenic Phenylketonuria 2014-06-06 criteria provided, single submitter literature only
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088846 SCV000119441 not provided not provided no assertion provided not provided

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