ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.707-2A>G

dbSNP: rs62514938
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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 RCV001375889 SCV001572845 pathogenic Phenylketonuria 2020-12-07 reviewed by expert panel curation This c.707-2A>G variant in PAH was reported in trans with pathogenic variant p.Arg408Trp in 1 Bulgarian patient with PAH deficiency (PMID: 1563085). This variant is absent from population databases gnomAD, 1000 Genomes and ESP. This variant in the -2 splice acceptor site of intron 6 disrupts the reading frame and is predicted to undergo nonsense mediated decay (NMD). The exon is present in biologically-relevant transcripts. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PM3, PP4.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089045 SCV000119650 not provided not provided no assertion provided not provided

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