ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.171_172del (p.Glu57_Asn58insTer)

dbSNP: rs1592979013
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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 RCV000993627 SCV001146759 pathogenic Phenylketonuria 2019-04-03 reviewed by expert panel curation The c.169_170delGA variant in PAH has been previously reported as a single (heterozygous) mutation in 1 Chinese PKU case (PMID: 26503515; PP4). The variant is a frameshift variant occurring in exon 3 of 13 in the in the canonical transcript of PAH, a gene fulfilling the most recent criteria for LOF being a known disease mechanism (see PMID: 30192042) (PVS1). It is absent from control databases including ethnically matched individuals, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PP4.

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