Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001789811 | SCV002032193 | uncertain significance | Phenylketonuria | 2020-08-13 | reviewed by expert panel | curation | The c.970-7A>G variant in PAH has been reported in the homozygous state in a Turkish patient with classic PKU (BH4 deficiency excluded) (PMID: 21147011) This variant has an extremely low frequency in ExAC and gnomAD (MAF=0.00016). computational evidence is conflicting: CADD 0.83088; HSF No significant splicing motif alteration detected; Splice AI Benign; TraP Score probably damaging. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2. |