Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000000510 | SCV000791881 | likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 2017-05-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000000510 | SCV000957583 | pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 2023-07-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 481). This missense change has been observed in individual(s) with biopterin-deficient hyperphenylalaninemia (PMID: 9450907, 23138986). This variant is present in population databases (rs104894277, gnomAD 0.02%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 56 of the PTS protein (p.Val56Met). |
Genome- |
RCV000000510 | SCV002014501 | pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000000510 | SCV004207146 | pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 2023-08-30 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000000510 | SCV004238605 | likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 2023-06-30 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000000510 | SCV000020659 | pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 1998-01-01 | no assertion criteria provided | literature only | |
Natera, |
RCV000000510 | SCV001452592 | pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |