ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.544A>G (p.Ile182Val)

gnomAD frequency: 0.00002  dbSNP: rs375230364
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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 RCV001989840 SCV002230471 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2021-07-17 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with TICAM1-related conditions. This variant is present in population databases (rs375230364, ExAC 0.01%). This sequence change replaces isoleucine with valine at codon 182 of the TICAM1 protein (p.Ile182Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine.

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