ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.233A>T (p.Glu78Val)

dbSNP: rs1877431301
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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 RCV001093503 SCV001250526 uncertain significance Phenylketonuria 2019-11-10 reviewed by expert panel curation The c.233A>T (p.Glu78Val) variant in PAH has been reported in a patient with PAH deficiency (BH4 deficiency excluded) (PP4_Moderate; PMID: 26503515) This variant is absent from 1000G, ESP, ExAC and gnomAD (PM2). A deleterious effect is predicted in SIFT, Polyphen-2, MutationTaster, and REVEL=0.824. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PP3.

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