ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.60+4A>T

dbSNP: rs1592991145
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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 RCV000993601 SCV001146692 likely pathogenic Phenylketonuria 2019-08-11 reviewed by expert panel curation Likely pathogenic: The c. 60+4A>T was reported in two patients with PKU, who carried a second pathogenic variant (PMID: 17502162, parental studies not reported). Further, computational splice site algorithms predict a reduction at the donor site of intron 1. This variant is absent from population databases, including 1000 Genomes, ESP, and gnomAD. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM3, PM2, PP3, PP4.

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