ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.970-7A>G

dbSNP: rs745670264
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel 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.

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