ClinVar Miner

Submissions for variant NM_001080449.3(DNA2):c.1372A>G (p.Lys458Glu)

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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 RCV002638951 SCV002977855 uncertain significance not provided 2024-12-25 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 458 of the DNA2 protein (p.Lys458Glu). This variant is present in population databases (rs747969481, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with DNA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1935248). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt DNA2 protein function with a negative predictive value of 80%. 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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