ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.706+5G>A

dbSNP: rs1331362460
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001269069 SCV001448293 uncertain significance Phenylketonuria 2020-10-15 reviewed by expert panel curation This c.706+5G>A variant in PAH was reported in one patient with hyperphenylalaninemia. Tetrahydrobiopterin deficiency was ruled out with urinary pterin analysis and a DHPR activity assay (PMID: 29499199). This variant is absent from population databases. Multiple lines of computation evidence support a deleterious effect. In summary, this variant meets criteria to be classified as Uncertain Significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP4_moderate, and PP3.

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