ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.721G>A (p.Glu241Lys)

gnomAD frequency: 0.00004  dbSNP: rs370487475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700624 SCV000829387 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 241 of the TICAM1 protein (p.Glu241Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs370487475, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with TICAM1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine 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.
Ambry Genetics RCV004601254 SCV003715088 uncertain significance not specified 2024-03-26 criteria provided, single submitter clinical testing The c.721G>A (p.E241K) alteration is located in exon 2 (coding exon 1) of the TICAM1 gene. This alteration results from a G to A substitution at nucleotide position 721, causing the glutamic acid (E) at amino acid position 241 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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