ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.671T>C (p.Ile224Thr)

dbSNP: rs62507323
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001261644 SCV001438943 likely pathogenic Phenylketonuria criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001261644 SCV003826573 pathogenic Phenylketonuria 2022-12-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001261644 SCV004030156 pathogenic Phenylketonuria 2023-07-28 criteria provided, single submitter clinical testing Variant summary: PAH c.671T>C (p.Ile224Thr) results in a non-conservative amino acid change located in the aromatic amino acid hydroxylase, C-terminal domain (IPR019774) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251334 control chromosomes (gnomAD). c.671T>C has been reported in the literature as a biallelic genotype in multiple individuals affected with Hyperphenylalaninemia/Phenylalanine Hydroxylase Deficiency (Phenylketonuria) (e.g. Hashem_1996, Shirzadeh_2018, Li_2018). These data indicate that the variant is very likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 8682503, 30050108, 30159852). One submitter has provided a clinical-significance assessment for this variant to ClinVar after 2014 and has classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics RCV001261644 SCV004209606 pathogenic Phenylketonuria 2023-08-29 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001261644 SCV004805111 pathogenic Phenylketonuria 2024-03-17 criteria provided, single submitter research
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089028 SCV000119633 not provided not provided no assertion provided not provided

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