ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.260_261insTGAGAACCCCCA (p.Pro86_Gln87insHisGluAsnPro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV004006222 SCV004814151 likely pathogenic GTP cyclohydrolase I deficiency with hyperphenylalaninemia 2020-10-30 criteria provided, single submitter clinical testing The GCH1 c.260_261insTGAGAACCCCCA (p.Pro86_Gln87insHisGluAsnPro) variant results in an inframe insertion. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not observed in version 2.1.1 of the Genome Aggregation Database. This variant is located in a known hotspot. Based on the available evidence, the c.260_261insTGAGAACCCCCA (p.Pro86_Gln87insHisGluAsnPro) is classified as likely pathogenic for hyperphenylalaninemia, BH4-deficient, B.

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