ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.155del (p.Leu52fs)

dbSNP: rs281865165
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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 RCV000106392 SCV001146710 pathogenic Phenylketonuria 2019-04-03 reviewed by expert panel curation The c.155delT (p.Leu52Cysfs) is a frameshift variant in exon 2 of 13 in PAH, predicted to undergo nonsense mediated decay with the truncated region critical to protein function. It has been reported in 1 individual with PKU (BH4 deficiency not excluded), who carried a second nonsense variant in PAH (PP4; PMID: 26666653 ). This variant is absent from population databases (PM2). In summary, this variant meets our criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PP4.
Inserm U 954, Faculté de Médecine de Nancy RCV000106392 SCV000143880 not provided Phenylketonuria no assertion provided not provided

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