ClinVar Miner

Submissions for variant NM_001080449.3(DNA2):c.2627A>G (p.Tyr876Cys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002894283 SCV003232723 uncertain significance not provided 2025-01-07 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 876 of the DNA2 protein (p.Tyr876Cys). This variant is present in population databases (rs376717498, gnomAD 0.06%). 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: 2029952). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV002894283 SCV005411023 uncertain significance not provided 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV002894283 SCV005909092 uncertain significance not provided 2024-10-11 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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