ClinVar Miner

Submissions for variant NM_199292.3(TH):c.499G>A (p.Val167Met) (rs142046543)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000347269 SCV000896141 uncertain significance Segawa syndrome, autosomal recessive 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347269 SCV000369922 uncertain significance Segawa syndrome, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000695696 SCV000824211 uncertain significance Dystonia 2018-08-09 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 167 of the TH protein (p.Val167Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs142046543, ExAC 0.02%). This variant has been reported in an individual affected with Parkinson’s disease (PMID: 22583432). This variant is also known as V136M in the literature. ClinVar contains an entry for this variant (Variation ID: 304078). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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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