ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.1210C>T (p.Pro404Ser)

gnomAD frequency: 0.00058  dbSNP: rs377021545
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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 RCV000647018 SCV000768804 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 404 of the UNC93B1 protein (p.Pro404Ser). This variant is present in population databases (rs377021545, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. 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: 537922). 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.
GenomeConnect - Invitae Patient Insights Network RCV000647018 SCV001749368 not provided Herpes simplex encephalitis, susceptibility to, 1 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 02-15-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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