ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.1123C>G (p.Leu375Val)

dbSNP: rs1856935745
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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 RCV001346764 SCV001540990 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2020-02-27 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with UNC93B1-related conditions. 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 replaces leucine with valine at codon 375 of the UNC93B1 protein (p.Leu375Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine.

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