ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.434G>T (p.Gly145Val)

dbSNP: rs753365777
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704121 SCV000833056 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2019-05-04 criteria provided, single submitter clinical testing This variant is present in population databases (rs753365777, ExAC 0.1%). This sequence change replaces glycine with valine at codon 145 of the TICAM1 protein (p.Gly145Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant has not been reported in the literature in individuals with TICAM1-related disease. 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. 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: "Probably Damaging"; Align-GVGD: "Class C15").

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