Total 11 pathogenic variants reported for GTP cyclohydrolase I deficiency with hyperphenylalaninemia

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000317.3(PTS):c.259C>T (p.Pro87Ser)	SNV Germline	Chr11:112233178	Pathogenic	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency Condition: not provided Hyperphenylalaninemia due to tetrahydrobiopterin deficiency GTP cyclohydrolase I deficiency with hyperphenylalaninemia	Criteria Provided Multiple Submitters No Conflicts	CA114319	rs_104894276	11 SubmittersRCV000000509 RCV002264906 RCV003153291 RCV003982818
NM_000161.3(GCH1):c.662T>C (p.Met221Thr)	SNV Germline	Chr14:54844108	Conflicting classifications of pathogenicity	GTP cyclohydrolase I deficiency Dystonia 5 Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive Dystonia 5 Intellectual disability Dystonia 5 GTP cyclohydrolase I deficiency with hyperphenylalaninemia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA120278	rs_104894434	8 SubmittersRCV001851776 RCV002508112 RCV004786251 RCV001260617 RCV005400412 RCV002223756 RCV004766995
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)	SNV Germline	Chr14:54844099	Conflicting classifications of pathogenicity	Dystonia 5 Condition: not provided Dystonia 5 GTP cyclohydrolase I deficiency GTP cyclohydrolase I deficiency Dopa-responsive dystonia Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive Inborn genetic diseases Dystonia 5 GTP cyclohydrolase I deficiency with hyperphenylalaninemia GTP cyclohydrolase I deficiency with hyperphenylalaninemia	Criteria Provided Conflicting Classifications	CA120280	rs_41298442	16 SubmittersRCV000009865 RCV000517539 RCV000525589 RCV000989227 RCV002255090 RCV002508114 RCV002512951 RCV005003351 RCV005252669
NM_000161.3(GCH1):c.633G>A (p.Met211Ile)	SNV Germline	Chr14:54844137	Pathogenic	GTP cyclohydrolase I deficiency with hyperphenylalaninemia	No Assertion Criteria Provided	CA120282	rs_104894443	1 SubmittersRCV004576896
NM_000161.3(GCH1):c.551G>A (p.Arg184His)	SNV Germline	Chr14:54845843	Pathogenic	GTP cyclohydrolase I deficiency Condition: not provided GTP cyclohydrolase I deficiency Dystonia 5 GTP cyclohydrolase I deficiency with hyperphenylalaninemia	Criteria Provided Multiple Submitters No Conflicts	CA120283	rs_104894445	4 SubmittersRCV000009873 RCV003137509 RCV003764543 RCV004576897
NM_000161.3(GCH1):c.610G>A (p.Val204Ile)	SNV Germline	Chr14:54845784	Conflicting classifications of pathogenicity	Dopa-responsive dystonia Condition: not provided Dystonia 5 GTP cyclohydrolase I deficiency Dystonia 5 not specified Dystonia 5 GTP cyclohydrolase I deficiency with hyperphenylalaninemia Intellectual disability	Criteria Provided Conflicting Classifications	CA211435	rs_200891969	12 SubmittersRCV000148506 RCV000489411 RCV000819611 RCV001705951 RCV001797636 RCV005359312 RCV005625324
NM_000161.3(GCH1):c.644T>C (p.Met215Thr)	SNV Germline	Chr14:54844126	Conflicting classifications of pathogenicity	GTP cyclohydrolase I deficiency with hyperphenylalaninemia	Criteria Provided Conflicting Classifications	CA389787204	rs_2140038918	2 SubmittersRCV002264873
NM_000317.3(PTS):c.108C>A (p.Asn36Lys)	SNV Germline	Chr11:112228618	Likely pathogenic	GTP cyclohydrolase I deficiency with hyperphenylalaninemia	No Assertion Criteria Provided	CA382627000	rs_1449216377	1 SubmittersRCV003983773
NM_000161.3(GCH1):c.667A>G (p.Ser223Gly)	SNV Germline	Chr14:54844103	Pathogenic	GTP cyclohydrolase I deficiency with hyperphenylalaninemia	Criteria Provided Single Submitter			1 SubmittersRCV005233280