ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1167_1168AG[2] (p.Ser391fs) (rs1429055740)

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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 RCV000669075 SCV001370810 pathogenic Phenylketonuria 2020-06-19 reviewed by expert panel curation The c.1171_1172del (p.Ser391PhefsTer2) variant in PAH has been reported in an individual with Classic PKU (BH4 deficiency excluded). (PMID: 8268925, 11708866, 27121329) in trans with pathogenic variant p.Ser349Pro. It is a frameshift variant in exon 11 of 13 in PAH, predicted to undergo nonsense mediated decay with the truncated region critical to protein function. This variant has an extremely low allele frequency (MAF=0.000008799) in gnomAD. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PM3, PP4_Moderate,
Counsyl RCV000669075 SCV000793777 likely pathogenic Phenylketonuria 2017-08-30 criteria provided, single submitter clinical testing

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