ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.1276A>G (p.Thr426Ala)

gnomAD frequency: 0.00001  dbSNP: rs995707106
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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 RCV001918243 SCV002179691 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2022-10-03 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1407063). This variant has not been reported in the literature in individuals affected with TICAM1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 426 of the TICAM1 protein (p.Thr426Ala).

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