ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.76del (p.Asp26fs)

dbSNP: rs1595031674
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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 RCV000802195 SCV000942013 pathogenic Dystonia 5; GTP cyclohydrolase I deficiency 2020-05-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GCH1 are known to be pathogenic (PMID: 19491146). This variant has not been reported in the literature in individuals with GCH1-related disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Asp26Ilefs*41) in the GCH1 gene. It is expected to result in an absent or disrupted protein product.

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