ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.166GTG[1] (p.Val57del)

dbSNP: rs770387277
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666747 SCV000791097 likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2017-04-21 criteria provided, single submitter clinical testing
Invitae RCV000666747 SCV001580128 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2021-10-13 criteria provided, single submitter clinical testing This variant, c.169_171del, results in the deletion of 1 amino acid(s) of the PTS protein (p.Val57del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs770387277, ExAC 0.009%). This variant has been observed in individual(s) with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency (PMID: 7493990, 11438997, 30926181). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 551630). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects PTS function (PMID: 7493990). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000666747 SCV002014500 likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2021-09-05 criteria provided, single submitter clinical testing
PerkinElmer Genomics RCV000666747 SCV002024771 likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2021-06-08 no assertion criteria provided clinical testing
Natera, Inc. RCV000666747 SCV002075540 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2020-04-14 no assertion criteria provided clinical testing

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