ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.818A>G (p.Lys273Arg)

dbSNP: rs1318077413
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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 RCV000806000 SCV000945979 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2018-12-26 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 for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with UNC93B1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with arginine at codon 273 of the UNC93B1 protein (p.Lys273Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine.

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