ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.308T>C (p.Val103Ala)

dbSNP: rs1555198459
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756428 SCV001985181 uncertain significance not provided 2020-10-08 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 20059486, 32202960, 32651154, 33234470)
Fulgent Genetics, Fulgent Genetics RCV002477922 SCV002784558 uncertain significance 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2021-09-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002477922 SCV003440323 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2022-05-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1302929). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 103 of the PTS protein (p.Val103Ala). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with 6-pyruvoyl-tetrahydropterin synthase deficiency (PMID: 20059486, 33234470). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. 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 tolerated. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV002477922 SCV004207166 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2023-03-25 criteria provided, single submitter clinical testing

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