ClinVar Miner

Submissions for variant NM_199292.3(TH):c.707T>C (p.Leu236Pro) (rs121917763)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000013118 SCV000486045 likely pathogenic Segawa syndrome, autosomal recessive 2016-11-04 criteria provided, single submitter clinical testing
GeneReviews RCV000013118 SCV000172459 pathogenic Segawa syndrome, autosomal recessive 2014-07-17 no assertion criteria provided literature only
Invitae RCV000630714 SCV000751681 pathogenic Dystonia 2018-06-08 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 236 of the TH protein (p.Leu236Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs121917763, ExAC 0.002%). This variant has been reported in numerous individuals affected with tyrosine hydroxylase deficiency (PMID: 8817341, 24753243, 23480488, 19282209, 12891655, 2019643, 20430833). This variant is also known as c.614T>C (p.Leu205Pro) in the literature. ClinVar contains an entry for this variant (Variation ID: 12325). Experimental studies have shown that this missense change results in reduced enzymatic activity in vitro (PMID: 8817341). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013118 SCV000033365 pathogenic Segawa syndrome, autosomal recessive 1999-06-01 no assertion criteria provided literature only

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