Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668809 | SCV000793473 | likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 2017-08-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000668809 | SCV000814118 | pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 2023-08-31 | criteria provided, single submitter | clinical testing | Experimental studies have shown that this variant affects PTS function (PMID: 9222757). For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 553378). This variant is also known as delK29-S32. This variant has been observed in individual(s) with biopterin deficient hyperphenylalaninemia (PMID: 9222757, 27246466). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 1 of the PTS gene. It does not directly change the encoded amino acid sequence of the PTS protein. It affects a nucleotide within the consensus splice site. |
Ce |
RCV001091030 | SCV001246862 | pathogenic | not provided | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001091030 | SCV001446717 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001091030 | SCV001791313 | pathogenic | not provided | 2019-03-11 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate that this variant results in complete inactivity of the PTPS enzyme (Oppliger et al., 1997) In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect, and predicts abnormal gene splicing Not observed in large population cohorts (Lek et al., 2016) This variant is associated with the following publications: (PMID: 9222757, 20059486, 10585341, 27246466, 25525159) |
Genome- |
RCV000668809 | SCV002014497 | pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000668809 | SCV004207151 | pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 2023-08-20 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000668809 | SCV002083332 | pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 2020-12-03 | no assertion criteria provided | clinical testing |