ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.2050G>A (p.Ala684Thr)

gnomAD frequency: 0.00001  dbSNP: rs376421303
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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 RCV002024519 SCV002315945 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 684 of the TICAM1 protein (p.Ala684Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs376421303, ExAC 0.002%). 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: "Deleterious"; 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003321895 SCV004026407 uncertain significance not provided 2023-07-06 criteria provided, single submitter clinical testing PM2_SUP, BP4

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