ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.572A>G (p.His191Arg)

dbSNP: rs750569131
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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 RCV001913880 SCV002178118 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2021-09-09 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 with UNC93B1-related conditions. This variant is present in population databases (rs750569131, ExAC 0.007%). This sequence change replaces histidine with arginine at codon 191 of the UNC93B1 protein (p.His191Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine.
Ambry Genetics RCV004042848 SCV004977934 uncertain significance not specified 2024-02-05 criteria provided, single submitter clinical testing The c.572A>G (p.H191R) alteration is located in exon 5 (coding exon 5) of the UNC93B1 gene. This alteration results from a A to G substitution at nucleotide position 572, causing the histidine (H) at amino acid position 191 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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