ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.781C>G (p.Arg261Gly)

dbSNP: rs5030850
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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 RCV000119826 SCV001250534 uncertain significance Phenylketonuria 2019-05-04 reviewed by expert panel curation The c.781C>G (p.Arg261Gly) variant in PAH has not been reported in the literature (to our knowledge). This variant is at extremely low frequency in gnomAD (MAF=0.00006, PM2). A deleterious effect is predicted in SIFT, Polyphen-2, MutationTaster, and REVEL=0.962. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3.
Inserm U 954, Faculté de Médecine de Nancy RCV000119826 SCV000154752 probable-pathogenic Phenylketonuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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