ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.364_372del (p.Val122_Thr124del)

dbSNP: rs2146171028
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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 RCV001981610 SCV002222580 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2021-06-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TICAM1-related conditions. This variant, c.364_372del, results in the deletion of 3 amino acid(s) of the TICAM1 protein (p.Val122_Thr124del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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