ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.1792T>G (p.Ter598Gly)

dbSNP: rs1590757014
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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 RCV000824477 SCV000965376 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2018-09-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with UNC93B1-related disease. 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the additional amino acid(s) is currently unknown. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change disrupts the translational stop signal of the UNC93B1 mRNA. It is expected to extend the length of the UNC93B1 protein by unknown number of additional amino acid residues.

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