ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.913-8A>G (rs281865452)

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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 RCV000106376 SCV001250556 uncertain significance Phenylketonuria 2019-11-08 reviewed by expert panel curation The c.913-8A>G PAH variant has been identified in at least one patient with classic PKU (PMID: 26666653). It was detected in trans with the pathogenic variant c.1315+1G>A (ClinVar 576). This variant is absent from 1000G, ESP, and gnomAD databases. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PM3.
Inserm U 954, Faculté de Médecine de Nancy RCV000106376 SCV000143876 probable-pathogenic Phenylketonuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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