ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1001G>C (p.Cys334Ser)

dbSNP: rs62517174
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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 RCV001543646 SCV001762323 uncertain significance Phenylketonuria 2019-12-15 reviewed by expert panel curation The c.1001G>C (p.Cys334Ser) variant in PAH has been reported in 2 patients with mild PKU/HPA. (BH4 deficiency not ruled out. PMID: 8632937, 10693064). It was detected with pathogenic variant p.F299C (PM3_supporting). This variant is absent from controls in ExAC, gnomAD, 1000 Genomes, and ESP. A deleterious effect is predicted in SIFT, Polyphen-2, MutationTaster, and REVEL=0.976. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3, PP4, PM3_supporting.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088695 SCV000119275 not provided not provided no assertion provided not provided

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