ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.97-12C>A

gnomAD frequency: 0.00001  dbSNP: rs1037340676
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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 RCV001908253 SCV002153541 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2021-03-31 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 falls in intron 1 of the UNC93B1 gene. It does not directly change the encoded amino acid sequence of the UNC93B1 protein.

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