ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.60G>C (p.Gln20His) (rs199475688)

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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 RCV000993618 SCV001146742 uncertain significance Phenylketonuria 2019-03-23 reviewed by expert panel curation The c.60G>C (p.Q20H) variant has been reported in 1 patient with PKU (not excluding BH4 deficiency), who carried 2 pathogenic variants (p.R158Q, p.R408W) in PAH (PMID: 18321666, PMID: 23430918). This variant is absent from population databases, including 1000 Genomes, ESP, and gnomAD. A deleterious effect is predicted in SIFT, Polyphen-2, MutationTaster, and REVEL=0.571. In summary, this variant meets our criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP3, PM2, PP4.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089006 SCV000119610 not provided not provided no assertion provided not provided

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