ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.386A>T (p.Asp129Val) (rs199475623)

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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 RCV001093517 SCV001250549 uncertain significance Phenylketonuria 2020-01-26 reviewed by expert panel curation The c.386A>T (p.Asp129Val) variant in PAH has not been reported in the literature to our knowledge. This variant is absent from 1000G, ESP, ExAC and gnomAD (PM2). A deleterious effect is predicted in SIFT, Polyphen-2, MutationTaster, and REVEL=0.986 (PM3). The (p.Asp129Gly) variant is likely pathogenic by 1 submitter and PAH VCEP (PM5). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM5, PP3.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088909 SCV000119507 not provided not provided no assertion provided not provided

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