ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.969+6T>C

dbSNP: rs62517196
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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 RCV002260500 SCV002540160 uncertain significance Phenylketonuria 2020-07-09 reviewed by expert panel curation The c.969+6T>C variant in PAH is absent from population databases (PM2). It has been observed in at least one mild PKU patient (PMID: 24941924; PP4). The patient is compound heterozygous with pathogenic variant c.1066‐11G>A (ClinVar 607; PM3_supporting). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3_supporting, PP4.

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