ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.842+4A>T (rs1555204434)

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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 RCV000993637 SCV001146769 uncertain significance Phenylketonuria 2019-06-09 reviewed by expert panel curation The c.842+4A>T PAH variant has been reported in PKU patients (PMID: 25863075). This variant is absent from 1000G, ESP, and gnomAD databases. This is an intronic variant in a highly conserved nucleotide, and computational analyses predict that this variant abolishes the donor splice site of intron 7. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP3, PM2, PP4.

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