ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)

gnomAD frequency: 0.00001  dbSNP: rs145882709
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410240 SCV000485729 likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2016-11-02 criteria provided, single submitter clinical testing
Invitae RCV000410240 SCV001381866 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2021-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr99*) in the PTS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acid(s) of the PTS protein. This variant is present in population databases (rs145882709, ExAC 0.001%). This premature translational stop signal has been observed in individual(s) with PTS-related conditions (PMID: 16917893, 23942198, 27246466). ClinVar contains an entry for this variant (Variation ID: 370413). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000410240 SCV001528353 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2018-02-27 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in patients [PMID 16917893, 27246466, 25087612, 25525159]
Genome-Nilou Lab RCV000410240 SCV002014507 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000410240 SCV002076088 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2021-09-17 no assertion criteria provided clinical testing

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