ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.136G>A (p.Glu46Lys)

gnomAD frequency: 0.00004  dbSNP: rs781047243
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001322320 SCV001513186 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2023-08-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 46 of the UNC93B1 protein (p.Glu46Lys). This variant is present in population databases (rs781047243, gnomAD 0.03%). 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: 1022414). 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.
Ambry Genetics RCV004035062 SCV004977927 uncertain significance not specified 2023-12-01 criteria provided, single submitter clinical testing The c.136G>A (p.E46K) alteration is located in exon 2 (coding exon 2) of the UNC93B1 gene. This alteration results from a G to A substitution at nucleotide position 136, causing the glutamic acid (E) at amino acid position 46 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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