ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.1315G>A (p.Ala439Thr)

gnomAD frequency: 0.00009  dbSNP: rs765439696
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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 RCV001955395 SCV002214525 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2021-05-31 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with UNC93B1-related conditions. This variant is present in population databases (rs765439696, ExAC 0.1%). This sequence change replaces alanine with threonine at codon 439 of the UNC93B1 protein (p.Ala439Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine.

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