ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.1216G>A (p.Glu406Lys)

gnomAD frequency: 0.00005  dbSNP: rs751265594
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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 RCV000813760 SCV000954132 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 406 of the TICAM1 protein (p.Glu406Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs751265594, ExAC 0.1%). 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 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"). 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 RCV004028799 SCV003890413 uncertain significance not specified 2023-02-06 criteria provided, single submitter clinical testing The c.1216G>A (p.E406K) 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 1216, causing the glutamic acid (E) at amino acid position 406 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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