ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.931_932del (p.Leu311fs)

dbSNP: rs281865430
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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 RCV000106378 SCV001146757 pathogenic Phenylketonuria 2019-07-14 reviewed by expert panel curation The c.931_932del frameshift variant has been identified in at least 1 proband with mild PKU, BH4 deficiency not excluded (PMID: 26666653). It has been detected in trans with the pathogenic variant R241C (PMID: 26666653). This variant is absent from 1000G, Exac, and gnomAD databases. c.931_932delCT generates a frameshift predicted to result in a premature stop codon 4 residues downstream in exon 9 and undergo NMD. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM3_Supporting, PM2, PP4.
Genome-Nilou Lab RCV000106378 SCV001810553 pathogenic Phenylketonuria 2021-07-22 criteria provided, single submitter clinical testing
Inserm U 954, Faculté de Médecine de Nancy RCV000106378 SCV000143878 probable-pathogenic Phenylketonuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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