ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.745del (p.Leu249fs)

dbSNP: rs1057516914
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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 RCV000410522 SCV002032233 pathogenic Phenylketonuria 2021-05-15 reviewed by expert panel curation The c.745del (p.Leu249fs) variant in PAH has been reported in 1 Chilean patient with mild PKU; Phe = 600-900umol/L (PMID: 29288420; PP4). This variant was detected with V388M - reported at Pathogenic in ClinVar (VarID:610, 7 submitters); phase not confirmed - 0.5 points (PMID: 29288420; PM3_supporting). This frameshift variant is predicted to undergo NMD, not located in last exon or last 50bp of preliminary exon (Coding exon number 7 out of 13 coding exons; 7 out of total exons) (PVS1). This variant is absent from population databases (PM2). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PP4, PM3_supporting.
Counsyl RCV000410522 SCV000486425 likely pathogenic Phenylketonuria 2016-05-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV000410522 SCV004201970 pathogenic Phenylketonuria 2022-08-29 criteria provided, single submitter clinical testing

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