ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.906+3G>T

dbSNP: rs2134361983
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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 RCV002039419 SCV002112712 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2021-11-06 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. 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. 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 falls in intron 7 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.

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