ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.177C>A (p.Gly59=)

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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 RCV003059162 SCV003333016 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-08-02 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 effect of this variant on mRNA splicing is currently unknown. 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 affects codon 59 of the UNC93B1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the UNC93B1 protein.

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