ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.148C>A (p.Arg50Ser)

gnomAD frequency: 0.00004  dbSNP: rs934872284
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204678 SCV001375895 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-07-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 50 of the UNC93B1 protein (p.Arg50Ser). This variant is present in population databases (no rsID available, gnomAD 0.09%). 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: 626042). 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001204678 SCV003920618 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2021-12-22 criteria provided, single submitter clinical testing UNC93B1 NM_030930.3 exon 2 p.Arg50Ser (c.148C>A): This variant has not been reported in the literature but is present in 20/21274 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs767892224). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Ambry Genetics RCV004027211 SCV004977928 uncertain significance not specified 2023-12-07 criteria provided, single submitter clinical testing The c.148C>A (p.R50S) alteration is located in exon 2 (coding exon 2) of the UNC93B1 gene. This alteration results from a C to A substitution at nucleotide position 148, causing the arginine (R) at amino acid position 50 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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