ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.484C>G (p.Leu162Val)

gnomAD frequency: 0.00004  dbSNP: rs780257437
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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 RCV001046218 SCV001210112 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 162 of the TICAM1 protein (p.Leu162Val). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs780257437, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with TICAM1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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