ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.1130C>A (p.Thr377Asn)

dbSNP: rs147816959
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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 RCV000822399 SCV000963199 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2021-12-27 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 664321). This variant has not been reported in the literature in individuals affected with TICAM1-related conditions. This variant is present in population databases (rs147816959, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 377 of the TICAM1 protein (p.Thr377Asn).

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