ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.554+3G>A

dbSNP: rs2134364340
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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 RCV001937487 SCV002129103 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2021-04-22 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the UNC93B1 gene. It does not directly change the encoded amino acid sequence of the UNC93B1 protein. It affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with UNC93B1-related conditions. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing 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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