ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.796A>C (p.Thr266Pro)

dbSNP: rs62508752
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000106367 SCV000886604 likely pathogenic Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.796A>C (p.Thr266Pro) variant in PAH is reported in 1 classic PKU patient with BH4 deficiency excluded. (PMID: 26666653, 23430918) It was detected with p.V190A, which is interpreted as pathogenic by our PAH VCEP. (PMID: 23430918) This variant is absent from ExAC, gnomAD, 1000G, and ESP. It is predicted deleterious in SIFT, Polyphen-2, MutationTaster, and REVEL=0.98. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP4_Moderate, PM3, PP3.
Inserm U 954, Faculté de Médecine de Nancy RCV000106367 SCV000143867 probable-pathogenic Phenylketonuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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