ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.969+4A>T

dbSNP: rs2136639453
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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 RCV001375896 SCV001572859 uncertain significance Phenylketonuria 2020-12-11 reviewed by expert panel curation The c.969+4A>T PAH variant has been reported in 1 Northwest Chinese patient with PAH deficiency (Phe ≥ 1200 μmol/L) (PMID: 30747360). A defect in BH4 metabolism was excluded through a BH4 loading test, urinary pterin analysis, and DHPR activity assay. This variant is absent from population databases gnomAD, 1000 Genomes and ESP. Splicing prediction algorithms predict this variant to be probably damaging. In summary, this variant meets criteria to be classified as a variant of uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP4_moderate, PP3.

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