ClinVar Miner

Submissions for variant NM_018082.6(POLR3B):c.478G>A (p.Glu160Lys)

gnomAD frequency: 0.00001  dbSNP: rs749479456
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV004762044 SCV001451635 uncertain significance POLR3-related leukodystrophy 2019-02-22 criteria provided, single submitter clinical testing The POLR3B c.478G>A (p.Glu160Lys) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Glu160Lys variant is reported at a frequency of 0.000009 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the limited evidence, the p.Glu160Lys variant is classified as a variant of uncertain significance for POLR3-related leukodystrophy.
Labcorp Genetics (formerly Invitae), Labcorp RCV002542864 SCV003258103 uncertain significance not provided 2021-12-20 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 989354). This variant has not been reported in the literature in individuals affected with POLR3B-related conditions. This variant is present in population databases (rs749479456, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 160 of the POLR3B protein (p.Glu160Lys). 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.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV002542864 SCV005197255 uncertain significance not provided 2023-09-20 criteria provided, single submitter clinical testing

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