ClinVar Miner

Submissions for variant NM_006466.4(POLR3F):c.230A>G (p.Lys77Arg)

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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 RCV002584809 SCV003490086 uncertain significance not provided 2024-11-05 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 36 of the POLR3F protein (p.Lys36Arg). This variant is present in population databases (rs776454367, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with POLR3F-related conditions. ClinVar contains an entry for this variant (Variation ID: 2173884). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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