ClinVar Miner

Submissions for variant NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg)

gnomAD frequency: 0.00072  dbSNP: rs138838276
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000220010 SCV000271680 uncertain significance not specified 2016-02-15 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Pro500Arg var iant in DNAAF1 has not been previously reported in individuals with pulmonary di sease, but has been identified in 0.25% (24/9432) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1388 38276). Computational prediction tools and conservation analysis suggest that th e p.Pro500Arg variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, while the clinical si gnificance of the p.Pro500Arg variant is uncertain, its frequency suggests that it is more likely to be benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000629577 SCV000750530 likely benign Primary ciliary dyskinesia 2025-01-22 criteria provided, single submitter clinical testing
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV000629577 SCV001431625 likely benign Primary ciliary dyskinesia 2018-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000629577 SCV002702051 benign Primary ciliary dyskinesia 2019-12-07 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV004725070 SCV005334556 uncertain significance not provided 2023-12-27 criteria provided, single submitter clinical testing In silico analysis supports 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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