ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.667A>G (p.Ile223Val)

gnomAD frequency: 0.00003  dbSNP: rs377418903
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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 RCV000798533 SCV000938153 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-08-09 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 644581). This variant has not been reported in the literature in individuals affected with UNC93B1-related conditions. This variant is present in population databases (rs377418903, gnomAD 0.006%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 223 of the UNC93B1 protein (p.Ile223Val).

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