Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pathology and Clinical Laboratory Medicine, |
RCV001261644 | SCV001438943 | likely pathogenic | Phenylketonuria | criteria provided, single submitter | clinical testing | ||
Revvity Omics, |
RCV001261644 | SCV003826573 | pathogenic | Phenylketonuria | 2022-12-12 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
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, |
RCV001261644 | SCV004805111 | pathogenic | Phenylketonuria | 2024-03-17 | criteria provided, single submitter | research | |
De |
RCV000089028 | SCV000119633 | not provided | not provided | no assertion provided | not provided |