ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.547_548delinsTT (p.Glu183Leu)

dbSNP: rs281865433
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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 RCV000106359 SCV001146737 likely pathogenic Phenylketonuria 2019-08-11 reviewed by expert panel curation The c.547_548delGAinsTT PAH variant has been identified in at least one patient with classic PKU (PMID: 26666653). It was detected in trans with the pathogenic variant c.143T>C; p.Leu48Ser (ClinVar 608). This variant is absent from 1000G, ESP, and gnomAD databases. It is predicted deleterious in multiple in silico models. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PM3, PP3.
Inserm U 954, Faculté de Médecine de Nancy RCV000106359 SCV000143859 probable-pathogenic Phenylketonuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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