ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.509+3A>G

gnomAD frequency: 0.00008  dbSNP: rs369661042
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551701 SCV000631820 uncertain significance Dystonia 5; GTP cyclohydrolase I deficiency 2022-10-17 criteria provided, single submitter clinical testing This sequence change falls in intron 3 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. This variant is present in population databases (rs369661042, gnomAD 0.02%). This variant has been observed in individual(s) with dystonia (PMID: 17898029). ClinVar contains an entry for this variant (Variation ID: 459900). 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. 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.
CeGaT Center for Human Genetics Tuebingen RCV001091043 SCV001246877 uncertain significance not provided 2023-07-01 criteria provided, single submitter clinical testing GCH1: PM2
Illumina Laboratory Services, Illumina RCV001114372 SCV001272250 uncertain significance Dystonia 5 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001114373 SCV001272251 uncertain significance GTP cyclohydrolase I deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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