ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.1238G>A (p.Arg413Gln)

gnomAD frequency: 0.00007  dbSNP: rs372838204
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224460 SCV003920561 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2021-03-30 criteria provided, single submitter clinical testing TICAM1 NM_182919.3 exon 2 p.Arg413Gln (c.1238G>A): This variant has not been reported in the literature, but it is present in 13/33582 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/19-4817152-C-T). This variant amino acid Glutamine (Gln) is present in 3 species (Guinea pig, Platypus, and Coelacanth) and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools are unclear. In summary, data on this variant are insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV003224460 SCV005845279 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2025-01-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 413 of the TICAM1 protein (p.Arg413Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with TICAM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 626185). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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