ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.478A>T (p.Lys160Ter)

dbSNP: rs2140063480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002250907 SCV002521104 likely pathogenic Dystonia 5 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003483884 SCV004232387 pathogenic Dystonic disorder 2024-01-11 criteria provided, single submitter clinical testing

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