ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.415A>T (p.Met139Leu)

gnomAD frequency: 0.00001  dbSNP: rs776563052
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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 RCV002033841 SCV002278421 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2021-08-23 criteria provided, single submitter clinical testing This sequence change replaces methionine with leucine at codon 139 of the UNC93B1 protein (p.Met139Leu). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with UNC93B1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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