ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.1205C>T (p.Pro402Leu)

gnomAD frequency: 0.00006  dbSNP: rs1304888907
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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 RCV001038090 SCV001201537 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 402 of the UNC93B1 protein (p.Pro402Leu). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 836872). 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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