ClinVar Miner

Submissions for variant NC_000014.9:g.(?_54865317)_(54865446_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000808641 SCV000948755 pathogenic Dystonia 5; GTP cyclohydrolase I deficiency 2019-08-02 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 2 of the GCH1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has been observed in several individuals affected with dystonia (PMID: 20108370, Invitae). Loss-of-function variants in GCH1 are known to be pathogenic (PMID: 19491146). For these reasons, this variant has been classified as Pathogenic.

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