ClinVar Miner

Submissions for variant NM_001080449.3(DNA2):c.2343A>G (p.Arg781=)

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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 RCV002890304 SCV003243536 uncertain significance not provided 2023-09-10 criteria provided, single submitter clinical testing This variant is present in population databases (rs199813257, gnomAD 0.03%). This sequence change affects codon 781 of the DNA2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DNA2 protein. This variant has not been reported in the literature in individuals affected with DNA2-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 2037889).

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