ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1129del (p.Tyr377fs)

dbSNP: rs62642941
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000000666 SCV001370838 pathogenic Phenylketonuria 2020-06-26 reviewed by expert panel curation The c.1129delT (p.Tyr377Thrfs) variant in PAH has been reported in an Icelandic PKU cohort. (PP4; PMID: 9450182). This variant is absent from gnomAD (PM2). 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 (PVS1). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PP4.
OMIM RCV000000666 SCV000020816 pathogenic Phenylketonuria 1997-11-01 no assertion criteria provided literature only
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088766 SCV000119350 not provided not provided no assertion provided not provided

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