ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.1726G>C (p.Ala576Pro)

gnomAD frequency: 0.00002  dbSNP: rs1330076422
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820979 SCV000961718 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-08-16 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. ClinVar contains an entry for this variant (Variation ID: 663159). This variant has not been reported in the literature in individuals affected with UNC93B1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces alanine with proline at codon 576 of the UNC93B1 protein (p.Ala576Pro). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and proline.

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