ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1315+5G>C

dbSNP: rs1874533541
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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 RCV001093512 SCV001250544 uncertain significance Phenylketonuria 2019-12-22 reviewed by expert panel curation The c.1315+5G>C variant in PAH is absent from population databases (PM2) and human splice finder and MaxEnt Scan predict a deleterious effect on the WT donor splice site (PM3). It has been observed in at least 2 moderate or classic PKU patients with BH4 deficiency excluded (PMID: 30747360; PP4_moderate). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3, PP4_moderate.

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