ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.532_537del (p.Arg178_Leu179del)

dbSNP: rs2039654207
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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 RCV001223493 SCV001395645 pathogenic Dystonia 5; GTP cyclohydrolase I deficiency 2023-05-04 criteria provided, single submitter clinical testing This variant, c.532_537del, results in the deletion of 2 amino acid(s) of the GCH1 protein (p.Arg178_Leu179del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GCH1 protein in which other variant(s) (p.Arg178Ser) have been determined to be pathogenic (PMID: 9120469, 10825351). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 951546). This variant has been observed in individual(s) with clinical features of a GCH1-related disorder (Invitae).

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