ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.442-1G>C

dbSNP: rs62514907
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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 RCV001375890 SCV001572846 pathogenic Phenylketonuria 2020-12-07 reviewed by expert panel curation This c.442-1G>C variant in PAH was reported in trans with pathogenic variant p.Val388Met in 1 Han Chinese patient with PAH deficiency (PMID: 28982351). This variant is absent from population databases gnomAD, 1000 Genomes and ESP. This variant in the -1 splice acceptor site of intron 4 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.
Baylor Genetics RCV001375890 SCV005053821 pathogenic Phenylketonuria 2024-02-29 criteria provided, single submitter clinical testing

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