ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.224A>T (p.Asp75Val)

dbSNP: rs1565866547
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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 RCV000758113 SCV000886588 likely pathogenic Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.224A>T (p.Asp75Val) variant in PAH is reported in 1 classic PKU patient. BH4 deficiency was excluded. It was detected in trans with a known pathogenic variant, p.R413P. (PMID: 26322415) This variant is absent from ExAC, gnomAD, 1000G, and ESP.Computational evidence is conflicting. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PP4_Moderate.

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