ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1099dup (p.Leu367fs)

dbSNP: rs62506951
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV002509212 SCV002818506 pathogenic Phenylketonuria 2022-07-30 reviewed by expert panel curation The frameshift variant c.1099dup (p.Leu367Profs*27) occurs in exon 11 of 13 and is predicted to result in NMD. The variant is found at an extremely low allele frequency of 0.000003980 overall in gnomAD with a MAF of 0.000008804 (1/113590) in the European population. One classical PKU patient has been reported (PMID: 16256386) with this variant in trans with Arg243Gln (ClinVar 591, Pathogenic by multiple submitters). In summary, this variant meets criteria to be classified as Pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PM3_supporting, PP4.
Baylor Genetics RCV002509212 SCV004209658 pathogenic Phenylketonuria 2023-06-06 criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088755 SCV000119339 not provided not provided flagged submission not provided
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088755 SCV000119340 not provided not provided no assertion provided not provided

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