ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.168+6T>G

dbSNP: rs62516144
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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 RCV000993609 SCV001146715 uncertain significance Phenylketonuria 2019-09-29 reviewed by expert panel curation The c.168+6T>G variant has been identified in at least 1 proband with classical PKU (PMIDs: 8889590) in trans with pathogenic variant c.47_48delCT (ClinVar 102696). This variant is absent from 1000G, ESP, and gnomAD databases. In summary, this variant meets criteria to be classified as unknown significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3_supporting, PP4.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088850 SCV000119445 not provided not provided no assertion provided not provided

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