ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.913-3C>G (rs281865451)

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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 RCV000106375 SCV001250555 uncertain significance Phenylketonuria 2019-11-08 reviewed by expert panel curation The c.913-3C>G variant in PAH is reported Likely Pathogenic in ClinVar (see variant ID 120294) by one laboratory, which states that it was found in a PKU patient but does not provide further information to support their classification. It does not appear to have been reported in the published literature. The variant is a non-canonical splice variant in PAH; it is predicted to result in altered splicing by relevant in-silico predictors, e.g., Human Splicing Finder, dbSNV ADA score 0.9997 (PP3). It is absent from ethnically diverse control databases, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3.
Inserm U 954, Faculté de Médecine de Nancy RCV000106375 SCV000143875 probable-pathogenic Phenylketonuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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