ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.541+1G>T

dbSNP: rs1555358599
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579215 SCV000681336 pathogenic not provided 2018-01-08 criteria provided, single submitter clinical testing The c.541+1G>T variant in the GCH1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 4. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.541+1G>T variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.541+1G>T as a pathogenic variant.
Invitae RCV001059581 SCV001224208 pathogenic Dystonia 5; GTP cyclohydrolase I deficiency 2021-09-01 criteria provided, single submitter clinical testing

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