ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1117_1118del (p.Ala373fs)

dbSNP: rs62516099
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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 RCV001269038 SCV001448227 pathogenic Phenylketonuria 2020-10-29 reviewed by expert panel curation The c.1117_1118del (p.Ala373fs) variant in PAH has been reported in 1 French patient with typical PKU, serum Phe > 1.2mM, BH4 deficiency not excluded (PP4). This frameshift variant is predicted to undergo NMD, not located in last exon or last 50bp of preliminary exon. Coding exon number 11 out of 13 coding exons (11 out of total exons) (PVS1). This variant is absent from population databases (PM2). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PP4.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088763 SCV000119347 not provided not provided no assertion provided not provided

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