ClinVar Miner

Submissions for variant NM_001080449.3(DNA2):c.2618A>G (p.Tyr873Cys)

gnomAD frequency: 0.00011  dbSNP: rs200309792
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001585915 SCV001818845 uncertain significance not provided 2021-06-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV001585915 SCV003271190 likely benign not provided 2024-08-24 criteria provided, single submitter clinical testing
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252893 SCV001164036 uncertain significance Microcephaly no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004740541 SCV005346550 likely benign DNA2-related disorder 2024-06-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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