ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.350C>T (p.Thr117Ile) (rs281865439)

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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, RCV000106354 SCV000852134 uncertain significance Phenylketonuria 2018-09-28 reviewed by expert panel curation PAH-specific ACMG/AMP criteria applied: PM2: Extremely low frequency in ExAC& gnomAD (MAF 0.00018). Absent from 1000G, ESP. In summary this variant meets criteria to be classified as uncertain significance for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PM2).
Inserm U 954, Faculté de Médecine de Nancy RCV000106354 SCV000143853 probable-pathogenic Phenylketonuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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