ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.1215_1216delinsCA (p.Val406Met)

dbSNP: rs1856933346
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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 RCV001069370 SCV001234534 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-06-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 406 of the UNC93B1 protein (p.Val406Met). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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: 862616). 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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