ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.540GGA[1] (p.Glu183del)

dbSNP: rs1875372846
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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 RCV001269060 SCV001448257 likely pathogenic Phenylketonuria 2020-10-16 reviewed by expert panel curation This c.543_545del (p.Glu182del) variant in PAH was reported in a patient with moderate PKU. BH4 enzyme deficiency was ruled out by analysis of urinary pterins and DHPR activity. This variant is observed with pathogenic variant c.611A>G, phase is unknown (PMID: 28754886). The variant is absent from controls in population databases. This in-frame deletion changes the protein length in a non-repeat region. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM4, PP4_moderate, and PM3_supporting.

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