Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000811036 | SCV000951281 | uncertain significance | Herpes simplex encephalitis, susceptibility to, 1 | 2022-10-24 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 65 of the UNC93B1 protein (p.Leu65Val). This variant is present in population databases (rs376191930, gnomAD 0.06%). 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: 654962). 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 valine 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. |
| Ambry Genetics | RCV004028716 | SCV003870154 | uncertain significance | not specified | 2023-01-06 | criteria provided, single submitter | clinical testing | The c.193C>G (p.L65V) alteration is located in exon 2 (coding exon 2) of the UNC93B1 gene. This alteration results from a C to G substitution at nucleotide position 193, causing the leucine (L) at amino acid position 65 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |