ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.632T>C (p.Met211Thr)

dbSNP: rs1566658823
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000785876 SCV000899112 likely pathogenic GTP cyclohydrolase I deficiency 2019-04-18 criteria provided, single submitter clinical testing The proband had a homozygous p.M211T variant in the GCH1 gene. The parents were heterozygous for the said variant. This variant has previously been reported in an Indian family with an autosomal recessive inheritance. The proband had dystonia, cough and cold, pigmented hair. MRI had shown symmetric diffusion restriction in dorsal brain stem and cerebellar white matter, peri gyral ductal grey matter and peritrigonal white matter. The variant is not reported in the 1000 genomes, dbSNP, ExAC databases. In-silico prediction of the variant is disease causing by SIFT, PolyPhen2, PROVEAN, FATHMM and MutationTaster. In summary, the p.M211T variant meets our criteria to be classified as likely pathogenic.

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