ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.2402A>C (p.Gln801Pro)

dbSNP: rs1847352150
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091331 SCV001247296 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001091331 SCV002593492 uncertain significance not provided 2023-06-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 871404). This variant has not been reported in the literature in individuals affected with POLR3A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 801 of the POLR3A protein (p.Gln801Pro). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt POLR3A protein function. 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.

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