ClinVar Miner

Submissions for variant NM_001080449.3(DNA2):c.1796G>A (p.Arg599His)

gnomAD frequency: 0.00068  dbSNP: rs201999986
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488267 SCV000574838 benign not provided 2023-08-01 criteria provided, single submitter clinical testing DNA2: BS1, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV000488267 SCV001013656 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000488267 SCV001797066 likely benign not provided 2020-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004609403 SCV005108397 uncertain significance Inborn genetic diseases 2024-04-23 criteria provided, single submitter clinical testing The c.1796G>A (p.R599H) alteration is located in exon 12 (coding exon 12) of the DNA2 gene. This alteration results from a G to A substitution at nucleotide position 1796, causing the arginine (R) at amino acid position 599 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000488267 SCV000802295 uncertain significance not provided 2016-02-22 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000488267 SCV001959329 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000488267 SCV001975922 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003962350 SCV004780158 likely benign DNA2-related disorder 2021-10-14 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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