ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.680T>A (p.Leu227Gln)

dbSNP: rs2136649239
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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 RCV001789821 SCV002032208 likely pathogenic Phenylketonuria 2020-08-07 reviewed by expert panel curation The c.680T>A (p.Leu227Gln) variant in PAH has been reported in 1 individual with mild PKU (BH4 deficiency excluded, PMID: 26503515, 19915519). This variant is absent in population databases. This variant was detected in trans with pathogenic variant c.611A>G (aka. EX6-96A>G, PMID:30050108). Computational evidence supports a deleterious effect. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3, PP3.

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