ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.839_840insT (p.Glu280fs)

dbSNP: rs199475653
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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 RCV003479004 SCV004222632 pathogenic Phenylketonuria 2023-10-15 reviewed by expert panel curation The c.839_840insT (p.Glu280Aspfs) variant in PAH has been reported in an individual with PKU (PP4; 15300621). This variant has is absent from ExAC and gnomAD (PM2_supporting). It is a null variant (frameshift) in exon 7/13 with NMD predicted (PVS1). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2_supporting, PP4.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089128 SCV000119737 not provided not provided no assertion provided not provided

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