ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.1345_1363+52del

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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 RCV003498856 SCV004364384 likely pathogenic Herpes simplex encephalitis, susceptibility to, 1 2023-12-25 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 9 (c.1345_1363+52del) of the UNC93B1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in UNC93B1 are known to be pathogenic (PMID: 16973841). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with UNC93B1-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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