ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.442-1377_509+226del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001375902 SCV001572869 pathogenic Phenylketonuria 2020-06-04 reviewed by expert panel curation The p.Ex5del1670 (c.442-1377_509+226del1671) is a 1670bp deletion in Exon 5 of PAH, 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.A313V variant (Pathogenic per PAH VCEP) (0.5 points; PM3_Supporting). Classification: Pathogenic Supporting Criteria: PVS1; PM2; PM3_Supporting; PP4_Moderate

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