ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.800A>G (p.Gln267Arg) (rs778154939)

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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, RCV000672289 SCV000886612 pathogenic Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.800A>G (p.Gln267Arg) variant in PAH has been reported in 1 individual with Classic PKU (BH4 deficiency excluded) and was detected with G257V which is pathogenic per the ClinGen PAH VCEP (PP4_Moderate, PM3; PMID: 24401910). This variant is absent in population databases (PM2). This variant has 1.1% enzyme activity (PS3; PMID: 24401910). Computational prediction tools and conservation analysis suggest that this variant may impact the protein (PP3). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PS3, PM2, PM3, PP3.
Counsyl RCV000672289 SCV000797384 uncertain significance Phenylketonuria 2018-01-26 criteria provided, single submitter clinical testing

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