ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.353-2A>G

dbSNP: rs1876628624
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001093521 SCV001250561 pathogenic Phenylketonuria 2019-10-18 reviewed by expert panel curation This c.353-2A>G (IVS3-2A>G) variant in PAH was reported in two Chinese patients with PAH deficiency (PMID: 26503515). DHPR activity, biopterin and/or pteridine analysis was performed to rule out other causes of hyperphenylalaninemia. This variant is absent from population databases ExAC and gnomAD. This variant in the -2 splice acceptor site of IVS3 results in exon skipping or use of a cryptic splice site. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_moderate, PM2, PVS1_very strong.

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