ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.443_509+1del

dbSNP: rs199475649
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001375901 SCV001572868 pathogenic Phenylketonuria 2020-05-22 reviewed by expert panel curation The c.443_509+1del (p.Ex5del) variant in PAH is a deletion of exon 5 and is predicted to lead to a frameshift at His170, premature protein truncation, and NMD (PVS1). It is absent from ethnically diverse control databases, including gnomAD (structural variant version, gnomAD SVs v2.1) (PM2). It has been previously reported in one patient with PKU (BH4 deficiency excluded by sequencing of the genes in the BH4 cofactor metabolism pathway) (PP4_Moderate) (PMID: 23942198) in presumed trans with the p.G332R variant (unclassified/VUS). It is also noted in ClinVar (ID 102681) without a classification. Classification: Pathogenic Supporting Criteria: PVS1; PM2; PP4_Moderate
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088929 SCV000119528 not provided not provided flagged submission not provided
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088929 SCV000119529 not provided not provided no assertion provided not provided

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