ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.1735G>C (p.Gly579Arg)

dbSNP: rs1332464949
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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 RCV000799305 SCV000938962 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-07-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with UNC93B1-related conditions. 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. ClinVar contains an entry for this variant (Variation ID: 645257). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 579 of the UNC93B1 protein (p.Gly579Arg).

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