ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.912+3A>C (rs281865450)

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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 RCV000106374 SCV001250538 uncertain significance Phenylketonuria 2019-11-08 reviewed by expert panel curation The c.912+3A>C variant in PAH has not been reported in the medical literature to the best of our knowledge. This variant is absent from gnomAD and the ESP population databases. This is an intronic variant in a highly conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by reducing (~30%) the canonical donor splice site. Given the absence of clinical information and mRNA functional studies, the significance of the c.912+3A>C variant can not be determined with certainty. PAH-specific ACMG/AMP criteria applied: PP3, PM2.
Inserm U 954, Faculté de Médecine de Nancy RCV000106374 SCV000143874 probable-pathogenic Phenylketonuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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