ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.958C>T (p.Arg320Cys)

gnomAD frequency: 0.00001  dbSNP: rs1565124797
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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 RCV000689810 SCV000817477 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2021-08-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 320 of the UNC93B1 protein (p.Arg320Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with UNC93B1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2) both suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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