ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.626+5G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003443388 SCV004168332 likely pathogenic not provided 2023-04-24 criteria provided, single submitter clinical testing Reported in a patient with L-dopa responsive dystonia in published literature (Steinberger et al., 2000); Intronic +5 splice site variant in a gene for which loss of function is a known mechanism of disease, and splice predictors support a deleterious effect; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 11113234)
Labcorp Genetics (formerly Invitae), Labcorp RCV003778486 SCV004570945 uncertain significance Dystonia 5; GTP cyclohydrolase I deficiency 2023-07-06 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has been observed in individual(s) with dystonia (PMID: 11113234). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 5 of the GCH1 gene. It does not directly change the encoded amino acid sequence of the GCH1 protein. It affects a nucleotide within the consensus splice site.

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