ClinVar Miner

Submissions for variant NM_005223.4(DNASE1):c.619C>T (p.Arg207Cys)

gnomAD frequency: 0.00153  dbSNP: rs148373909
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239325 SCV000297189 uncertain significance not specified 2015-10-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422165 SCV004144941 benign not provided 2022-05-01 criteria provided, single submitter clinical testing DNASE1: BS1, BS2
Clinical Genomics Laboratory, Washington University in St. Louis RCV004555859 SCV005045153 uncertain significance Systemic lupus erythematosus 2023-12-26 criteria provided, single submitter clinical testing The DNASE1 c.619C>T (p.Arg207Cys) variant, to our knowledge, has not been reported in the medical literature. The highest population minor allele frequency in the population database genome aggregation database (v.2.1.1) is 0.36% in the South Asian population, which is higher than the expected incidence of systemic lupus erythematosus. Computational predictors are uncertain as to the impact of this variant on DNASE1 function. This variant has been reported in the ClinVar database as a germline variant by two submitters, one as a variant of uncertain significance and one as benign due to the high allele frequency. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.
Breakthrough Genomics, Breakthrough Genomics RCV003422165 SCV005194179 uncertain significance not provided criteria provided, single submitter not provided

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