ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.620G>A (p.Arg207Gln)

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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 RCV002616222 SCV003506687 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-05-07 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. This variant has not been reported in the literature in individuals affected with UNC93B1-related conditions. This variant is present in population databases (rs779331638, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 207 of the UNC93B1 protein (p.Arg207Gln).
Ambry Genetics RCV004070484 SCV004977935 uncertain significance not specified 2024-01-23 criteria provided, single submitter clinical testing The c.620G>A (p.R207Q) alteration is located in exon 5 (coding exon 5) of the UNC93B1 gene. This alteration results from a G to A substitution at nucleotide position 620, causing the arginine (R) at amino acid position 207 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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