ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.155A>G (p.Asn52Ser)

gnomAD frequency: 0.00001  dbSNP: rs104894275
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000000508 SCV000636854 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2021-12-02 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 52 of the PTS protein (p.Asn52Ser). This variant is present in population databases (rs104894275, gnomAD 0.1%). This missense change has been observed in individuals with PTS deficiency (PMID: 8707300, 9450907, 11438997, 17160954). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 479). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects PTS function (PMID: 23138986). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000508 SCV000020657 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 1998-01-01 no assertion criteria provided literature only
Counsyl RCV000000508 SCV000790852 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2019-01-29 no assertion criteria provided clinical testing
SingHealth Duke-NUS Institute of Precision Medicine RCV000000508 SCV000853173 uncertain significance 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2017-06-07 no assertion criteria provided curation
Natera, Inc. RCV000000508 SCV001452591 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2020-09-16 no assertion criteria provided clinical testing
PerkinElmer Genomics RCV000000508 SCV002019566 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2021-05-26 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.