ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.96+6C>A

gnomAD frequency: 0.00012  dbSNP: rs1046173869
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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 RCV001327386 SCV001518461 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-09-01 criteria provided, single submitter clinical testing This sequence change falls in intron 1 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. This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with UNC93B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1026867). Variants that disrupt 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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