ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) (rs764974157)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000666644 SCV000886574 likely pathogenic Phenylketonuria 2018-12-09 reviewed by expert panel curation The c.1285C>A (p.Gln429Lys) variant in PAH is reported in a patient with mild PKU (Phe level 720). BH4 cofactor deficiency was excluded. It was detected with a known pathogenic variant, EX6-96A>G (VarID 590). (PMID: 26503515, 28982351) This variant has a low frequency in gnomAD and ExAC (MAF=0.00002), and absent in 1000G. Computational evidence is conflicting. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP4_Moderate, PM3.
Counsyl RCV000666644 SCV000790972 uncertain significance Phenylketonuria 2017-04-18 criteria provided, single submitter clinical testing

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