ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.151C>G (p.Arg51Gly)

gnomAD frequency: 0.00039  dbSNP: rs906974288
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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 RCV001047752 SCV001211732 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 51 of the UNC93B1 protein (p.Arg51Gly). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 844807). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV004031482 SCV003741210 uncertain significance not specified 2022-04-22 criteria provided, single submitter clinical testing The c.151C>G (p.R51G) alteration is located in exon 2 (coding exon 2) of the UNC93B1 gene. This alteration results from a C to G substitution at nucleotide position 151, causing the arginine (R) at amino acid position 51 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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