ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.842+6T>A

dbSNP: rs1592952773
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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 RCV000993638 SCV001146770 uncertain significance Phenylketonuria 2019-04-03 reviewed by expert panel curation The c.842+6T>A PAH variant has been identified in at least one patient with hyperphenylalaninemia (PMID: 10429004). Serum phenylalanine was considered severe in this patient (>28mg/dl), however without indication of a second PAH variant. This variant is absent from 1000G, ESP, and gnomAD databases. It is intronic in a highly conserved nucleotide, and computation analysis predict a reduction in splicing at the donor 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, PP4, PM2.

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