ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.843-5T>C

dbSNP: rs1875163630
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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 RCV001264614 SCV001448661 pathogenic Phenylketonuria 2020-09-12 reviewed by expert panel curation The c.843-5T>C variant in PAH is absent from population databases (PM2). It has been observed in several classic PKU patients with BH4 deficiency excluded (PMID: 24048906 and PMID: 22526846; PP4). has been reported in at least 6 homozygous patients and 12 compound heterozygous patients harboring 7 additional Pathogenic/Likely Pathogenic variants (PMIDs: 31924462, 29892150, 30159852, 24048906, 22526846, PM3. In summary, this variant meets criteria to be classified as Pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3_VeryStrong, PP4_moderate.
Alibakhshi Medical Genetics Laboratory, Kermanshah University of Medical Sciences RCV001264614 SCV001370535 pathogenic Phenylketonuria criteria provided, single submitter research The c.843-5T>C (IVS7-5T>C) variant in PAH gene was first identified in Laki PKU patients living in Kermanshah Province, West Iran (Alibakhshi et al., 2013). Subsequently, it was reported by Shirzadeh et al. and Shaykholeslam-Esfahani et al., both studies performed in Iran (2019). This variant has not been observed in any of the 800 healthy Iranian individuals (1600 alleles) examined in the Iranome project (http://www.iranome.ir/gene/ENSG00000171759). In addition, it was predicted as a disease causing variant based on Mutation Taster database (http://www.mutationtaster.org/). In summary, the c.843-5T>C variant meets our criteria to be classified as pathogenic based upon segregation studies and absence from controls.
Baylor Genetics RCV001264614 SCV005053847 pathogenic Phenylketonuria 2023-11-07 criteria provided, single submitter clinical testing

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