ClinVar Miner

Submissions for variant NM_006466.4(POLR3F):c.534G>A (p.Glu178=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003044861 SCV003350630 uncertain significance not provided 2022-05-05 criteria provided, single submitter clinical testing This sequence change affects codon 137 of the POLR3F mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the POLR3F protein. 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. This variant has not been reported in the literature in individuals affected with POLR3F-related conditions. This variant is not present in population databases (gnomAD no frequency).

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