ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.424G>A (p.Ala142Thr)

gnomAD frequency: 0.00006  dbSNP: rs190159924
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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 RCV000808241 SCV000948339 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 142 of the UNC93B1 protein (p.Ala142Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs190159924, gnomAD 0.02%). 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: 652648). 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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