ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.393G>A (p.Arg131=)

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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 RCV002619214 SCV003498123 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2023-07-18 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 is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 2180353). 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 affects codon 131 of the UNC93B1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the UNC93B1 protein. It affects a nucleotide within the consensus splice site.

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