ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1316-2A>G

gnomAD frequency: 0.00001  dbSNP: rs760830761
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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 RCV003479144 SCV004222637 likely pathogenic Phenylketonuria 2022-12-09 reviewed by expert panel curation This c.1316-2A>G variant in PAH was reported in 1 Han Chinese patient with PAH deficiency (PMID: 28982351). This variant is present in European (non-Finnish) populations at an extremely low frequency in gnomAD (MAF=0.00001), and ExAC (MAF=0.00002). This variant in the -2 splice acceptor site of intron 12, disrupts the reading frame and is not 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 likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1 strong, PM2, PP4.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506381 SCV000601710 uncertain significance not specified 2016-10-06 criteria provided, single submitter clinical testing

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