ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.1152_1168del (p.Gly385fs)

dbSNP: rs2134359450
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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 RCV002050522 SCV002114336 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-06-27 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. This variant has not been reported in the literature in individuals affected with UNC93B1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly385Thrfs*106) in the UNC93B1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 213 amino acid(s) of the UNC93B1 protein.

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