ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.237C>T (p.Gly79=)

gnomAD frequency: 0.00002  dbSNP: rs370301428
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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 RCV001924404 SCV002202111 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2021-11-13 criteria provided, single submitter clinical testing This sequence change affects codon 79 of the TICAM1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TICAM1 protein. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with TICAM1-related conditions. This variant is present in population databases (rs370301428, gnomAD 0.004%).

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