ClinVar Miner

Submissions for variant NM_032305.3(POLR3GL):c.-41-1G>A

gnomAD frequency: 0.00001  dbSNP: rs782661984
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003411691 SCV004113459 pathogenic POLR3GL-related disorder 2023-08-21 criteria provided, single submitter clinical testing The POLR3GL c.-41-1G>A variant is located in the 5' untranslated region. This variant was reported in the compound heterozygous state along with another variant affecting splicing in an individual with endosteal hyperostosis and oligodontia, with RNA studies demonstrating this variant disrupts splicing (Terhal. 2020. PubMed ID: 31089205). This variant is reported in 0.0048% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-145460264-C-T). This variant is interpreted as pathogenic.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000766136 SCV000882436 likely pathogenic Short stature; Abnormal facial shape; Oligodontia; Hyperostosis 2019-01-23 no assertion criteria provided clinical testing
OMIM RCV001328379 SCV001519500 pathogenic Short stature, oligodontia, dysmorphic facies, and motor delay 2021-03-17 no assertion criteria provided literature only

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