ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.7T>G (p.Cys3Gly)

dbSNP: rs777499533
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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 RCV000707570 SCV000836671 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2018-03-28 criteria provided, single submitter clinical testing This sequence change replaces cysteine with glycine at codon 3 of the TICAM1 protein (p.Cys3Gly). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and glycine. This variant is present in population databases (rs777499533, ExAC 0.002%). This variant has not been reported in the literature in individuals with TICAM1-related disease. 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 glycine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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