ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.904C>G (p.Leu302Val)

gnomAD frequency: 0.00001  dbSNP: rs1421037162
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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 RCV001951888 SCV002190940 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-02-05 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 302 of the UNC93B1 protein (p.Leu302Val). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected 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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