ClinVar Miner

Submissions for variant NM_004944.4(DNASE1L3):c.65G>A (p.Arg22Lys)

gnomAD frequency: 0.00031  dbSNP: rs139865883
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002968041 SCV003289857 uncertain significance not provided 2022-05-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 22 of the DNASE1L3 protein (p.Arg22Lys). This variant is present in population databases (rs139865883, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with DNASE1L3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Experimental studies have shown that this missense change does not substantially affect DNASE1L3 function (PMID: 24206041). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV005028086 SCV005660130 uncertain significance Autosomal systemic lupus erythematosus type 16 2024-06-07 criteria provided, single submitter clinical testing

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