ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.923G>C (p.Gly308Ala)

gnomAD frequency: 0.00001  dbSNP: rs1442000007
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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 RCV000647012 SCV000768798 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-08-22 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. ClinVar contains an entry for this variant (Variation ID: 537918). This variant has not been reported in the literature in individuals affected with UNC93B1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 308 of the UNC93B1 protein (p.Gly308Ala).

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