ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1196T>C (p.Val399Ala)

dbSNP: rs281865436
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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 RCV000106344 SCV001448238 likely pathogenic Phenylketonuria 2020-07-10 reviewed by expert panel curation The c.1196T>C (p.Val399Ala) variant in PAH has been reported in multiple individuals with PKU (BH4 deficiency excluded) detected with pathogenic variants P281L, E178G PMID: 21147011, p.R408W PMID: 23062575, c.1066-11G>A PMID: 26666653, parental analysis not performed. This variant is absent in population databases. Multiple lines of computational evidence support a deleterious effect. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3_strong, PP3.
Institute of Human Genetics, University Hospital Muenster RCV004584352 SCV002578030 likely pathogenic See cases 2021-12-08 criteria provided, single submitter clinical testing ACMG categories: PM1,PM2,PP3,PP5,BP1
Inserm U 954, Faculté de Médecine de Nancy RCV000106344 SCV000143843 probable-pathogenic Phenylketonuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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