ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1043_1053del (p.Leu348fs)

dbSNP: rs199475600
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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 RCV001269310 SCV001448659 pathogenic Phenylketonuria 2020-10-30 reviewed by expert panel curation The c.1043_1053del (p.Leu348fs) variant in PAH has been reported in 1 female patient with classic PKU, serum Phe = 2600 umol/L; BH4 deficiency not excluded (PP4_Moderate). This variant was detected with R408W, reported as Pathogenic in ClinVar, phase not confirmed (0.5 points; PM3_Supporting). This frameshift variant is predicted to undergo NMD, not located in last exon or last 50bp of preliminary exon. Coding exon number 10 out of 13 coding exons (10 out of total exons) (PVS1), and 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, PM3_Supporting.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088720 SCV000119301 not provided not provided no assertion provided not provided

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