ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.73C>G (p.Arg25Gly)

dbSNP: rs1167104933
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545224 SCV000636858 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2021-11-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 25 of the PTS protein (p.Arg25Gly). This variant is present in population databases (no rsID available, gnomAD 0.01%). This missense change has been observed in individual(s) with biopterin deficient hyperphenylalanemia (PMID: 9450907, 23138986). 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. ClinVar contains an entry for this variant (Variation ID: 463153). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000545224 SCV000789471 likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2017-02-01 no assertion criteria provided clinical testing

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