ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.379G>A (p.Glu127Lys)

dbSNP: rs1555206565
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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 RCV000664540 SCV001250524 uncertain significance Phenylketonuria 2019-11-10 reviewed by expert panel curation The c.379G>A (p.Glu127Lys) variant in PAH has been reported in a patient with PAH deficiency (BH4 deficiency excluded) (PP4_Moderate; PMID: 26503515) This variant is absent from 1000G, ESP, ExAC and gnomAD (PM2). A deleterious effect is predicted in SIFT, Polyphen-2 HVAR, MutationTaster, and REVEL=0.781. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PP3.
Counsyl RCV000664540 SCV000788519 uncertain significance Phenylketonuria 2017-01-11 criteria provided, single submitter clinical testing

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