ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.368G>T (p.Arg123Ile)

dbSNP: rs199475681
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000666513 SCV000886566 uncertain significance Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.368G>T (p.Arg123Ile) variant in PAH has not been reported in the literature to our knowledge. A reference listed in BioPKU/PAHdb cannot be located (Carducci, C 2009). This variant is absent from ExAC, gnomAD, 1000G, and ESP. Deleterious effect is predicted in SIFT, Polyphen2, MutationTaster. REVEL=0.864. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3.
Counsyl RCV000666513 SCV000790818 uncertain significance Phenylketonuria 2017-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666513 SCV001560706 uncertain significance Phenylketonuria 2021-08-24 criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088905 SCV000119503 not provided not provided no assertion provided not provided

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