ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.241_256del (p.Thr81fs)

dbSNP: rs63749677
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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 RCV001269056 SCV001448251 pathogenic Phenylketonuria 2020-10-22 reviewed by expert panel curation This c.241_256del (p.Thr81fs) variant in PAH has been reported in two patients with PKU, observed with two pathogenic variants: p.R241C, phase unknown (PMID: 14722928) and with p.V399V, phase unknown (PMID: 24401910). This variant is absent from controls is population databases. This is a frameshift variant in exon 3 out of 13 coding exons. The variant is predicted to undergo nonsense mediated mRNA decay (NMD), as it is not located in the 3’-most exon or the 3’-most 50 bp of the penultimate exon. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PP4_moderate, and PM3.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088882 SCV000119479 not provided not provided no assertion provided not provided

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