ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.1246C>A (p.Leu416Met)

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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 RCV003014874 SCV003317589 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2022-08-19 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with TICAM1-related conditions. This variant is present in population databases (rs201008382, gnomAD 0.03%). This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 416 of the TICAM1 protein (p.Leu416Met).

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