ClinVar Miner

Submissions for variant NM_199292.3(TH):c.678G>A (p.Ser226=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764963 SCV000896139 uncertain significance Segawa syndrome, autosomal recessive 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000705890 SCV000834907 uncertain significance Dystonia 2018-02-19 criteria provided, single submitter clinical testing This sequence change affects codon 226 of the TH mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TH protein. This variant is present in population databases (rs376615793, ExAC 0.01%). This variant has not been reported in the literature in individuals with TH-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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