ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.60+5_60+6del (rs1592991131)

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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 RCV000993646 SCV001146778 uncertain significance Phenylketonuria 2019-04-03 reviewed by expert panel curation The PAH c.60+5_60+6del variant has been reported once in a PKU case, however without indication of a second in trans variant (PMID: 26503515). This variant is absent from the population database gnomAD and results in deletion of moderately conserved bases in the donor splice site of intron 1. Computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical splice site. Altogether, there is not enough evidence to classify the c.60+5_60+6del variant with certainty. PAH-specific ACMG/AMP criteria applied: PP4, PP3, PM2

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