ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.558G>A (p.Met186Ile)

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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 RCV003078730 SCV003476165 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-06-25 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. This variant has not been reported in the literature in individuals affected with UNC93B1-related conditions. This variant is present in population databases (rs755226619, gnomAD 0.003%). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 186 of the UNC93B1 protein (p.Met186Ile).

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