Submissions for variant NC_000011.10:g.2171856C>T

dbSNP: rs1372180906

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001390236	SCV001591903	pathogenic	Autosomal recessive DOPA responsive dystonia	2024-12-12	criteria provided, single submitter	clinical testing	This variant occurs in a non-coding region of the TH gene. It does not change the encoded amino acid sequence of the TH protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with tyrosine hydroxylase deficiency (PMID: 17696123, 21465550; internal data). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 526213). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen	RCV002060712	SCV002497097	pathogenic	not provided	2022-02-01	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001390236	SCV004203869	likely pathogenic	Autosomal recessive DOPA responsive dystonia	2024-03-25	criteria provided, single submitter	clinical testing
OMIM	RCV001390236	SCV000033373	pathogenic	Autosomal recessive DOPA responsive dystonia	2007-10-01	no assertion criteria provided	literature only