ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1200-3T>G

dbSNP: rs1874550090
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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 RCV001269067 SCV001448290 likely pathogenic Phenylketonuria 2020-10-16 reviewed by expert panel curation This c.1200-3T>G (aka IVS11-3T>G) intronic variant in PAH was reported in one patient with classic PKU, in trans with pathogenic variant p.Tyr204Cys. Patients with BH4 cofactor deficiency were excluded but only urinary pterin analysis was mentioned as a method of exclusion (PMID:28982351). According to in silico splicing predictions, this variant is probably damaging. The variant is absent from controls in population databases. In summary, this variant meets criteria to be classified as Likely Pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PP3, and PP4.

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