ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.393del (p.Val132fs)

dbSNP: rs780332520
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672138 SCV000797206 likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2018-01-16 criteria provided, single submitter clinical testing
Invitae RCV000672138 SCV001401258 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2021-09-08 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the PTS gene (p.Val132Tyrfs*19). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 14 amino acid(s) of the PTS protein and extend the protein by 4 additional amino acid residues. This variant is present in population databases (rs780332520, ExAC 0.002%). This frameshift has been observed in individual(s) with biopterin-deficient hyperphenylalaninemia (PMID: 19280650, 20059486). ClinVar contains an entry for this variant (Variation ID: 556173). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000672138 SCV002014510 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000672138 SCV002078507 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2020-08-10 no assertion criteria provided clinical testing

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