ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.1364C>T (p.Thr455Ile)

gnomAD frequency: 0.00001  dbSNP: rs754049416
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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 RCV001875439 SCV002148092 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2021-10-03 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 455 of the UNC93B1 protein (p.Thr455Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with UNC93B1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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