ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1163_1164del (p.Val388fs)

dbSNP: rs199475629
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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 RCV001269039 SCV001448228 pathogenic Phenylketonuria 2020-10-29 reviewed by expert panel curation The c.1163_1164del (p.Val388fs) variant in PAH has been reported in 1 female patient with classic PKU, Phe = 1210umol/L; BH4 deficiency not excluded (PMID: 10200057; 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 RCV000088776 SCV000119361 not provided not provided no assertion provided not provided

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