ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.1574_1575delinsCT (p.Arg525Pro)

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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 RCV003022580 SCV003326279 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-03-13 criteria provided, single submitter clinical testing Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 525 of the UNC93B1 protein (p.Arg525Pro). This variant has not been reported in the literature in individuals affected with UNC93B1-related conditions. 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.

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