ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.1138G>A (p.Val380Met)

gnomAD frequency: 0.00004  dbSNP: rs763186957
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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 RCV000795068 SCV000934509 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 380 of the UNC93B1 protein (p.Val380Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs763186957, gnomAD 0.08%). 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: 641756). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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