ClinVar Miner

Submissions for variant NM_052963.3(TOP1MT):c.1800_1802del (p.Glu600_Phe601delinsAsp)

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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 RCV003112402 SCV003787151 uncertain significance not provided 2023-03-24 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant, c.1800_1802del, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the TOP1MT protein (p.Glu600_Phe601delinsAsp). This variant is present in population databases (rs779398707, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with TOP1MT-related conditions. ClinVar contains an entry for this variant (Variation ID: 2419158). 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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