ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.470G>A (p.Arg157His)

gnomAD frequency: 0.00001  dbSNP: rs751962281
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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 RCV001210710 SCV001382209 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-05-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 157 of the UNC93B1 protein (p.Arg157His). This variant is present in population databases (rs751962281, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with UNC93B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 941008). 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.

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