ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.3840G>A (p.Met1280Ile)

gnomAD frequency: 0.00001  dbSNP: rs773367121
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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 RCV001975970 SCV002256541 uncertain significance not provided 2021-12-09 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1280 of the POLR3A protein (p.Met1280Ile). This variant is present in population databases (rs773367121, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with POLR3A-related conditions. 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 tolerated. 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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