ClinVar Miner

Submissions for variant NM_018082.6(POLR3B):c.1105_1106dup (p.Leu369fs)

dbSNP: rs2136999020
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573625 SCV001799786 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726595 SCV001967024 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004734239 SCV005361658 uncertain significance POLR3B-related disorder 2024-08-31 no assertion criteria provided clinical testing The POLR3B c.1105_1106dupTT variant is predicted to result in a frameshift and premature protein termination (p.Leu369Phefs*17). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.054% of alleles in individuals of European (Finnish) descent in gnomAD. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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