ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.187A>G (p.Ile63Val)

gnomAD frequency: 0.00001  dbSNP: rs778053171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666677 SCV000791008 uncertain significance 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2017-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666677 SCV004294936 pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2023-05-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 551578). This missense change has been observed in individual(s) with hyperphenylalaninemia (PMID: 23942198, 33822819). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs778053171, gnomAD 0.004%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 63 of the PTS protein (p.Ile63Val).

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