ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.968C>T (p.Thr323Ile)

dbSNP: rs1874870478
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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 RCV001199983 SCV001370811 uncertain significance Phenylketonuria 2020-06-25 reviewed by expert panel curation The c.968C>T (p.Thr323Ile) variant in PAH meets criteria to be classified as uncertain significance due to insufficient evidence. PAH-specific ACMG/AMP criteria applied: PM2: Absent from population databases (1000 Genomes, ExAC). PP3: Computational prediction tools suggest that the c.968C>T variant is damaging to protein function. Evolutionarily conserved. PP4: Patient has classic PKU (PMID:24350308). PM3_Supporting: Found to co-occur with p.R408W in one patient with classic PKU, but no additional studies to demonstrate phase of variants. No other PAH variants identified in patient (PMID:24350308). Undefined BH4 responsiveness (PMID:24350308).

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