ClinVar Miner

Submissions for variant NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn)

gnomAD frequency: 0.02715  dbSNP: rs149158199
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Total submissions: 7
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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 RCV000223221 SCV000268986 benign not specified 2016-01-29 criteria provided, single submitter clinical testing p.Asp435Asn in exon 8 of DNAAF1: This variant is not expected to have clinical s ignificance because it has been identified in 3.3% (2200/66558) of European chro mosomes, including 39 homozygotes, by the Exome Aggregation Consortium (ExAC, ht tp://exac.broadinstitute.org; dbSNP rs149158199).
PreventionGenetics, part of Exact Sciences RCV000223221 SCV000316643 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094423 SCV000399159 likely benign Primary ciliary dyskinesia 13 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000292984 SCV000561279 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001706221 SCV001865915 benign not provided 2020-02-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31213628)
Ambry Genetics RCV000292984 SCV002693721 benign Primary ciliary dyskinesia 2014-06-17 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001094423 SCV004563907 benign Primary ciliary dyskinesia 13 2023-10-06 criteria provided, single submitter clinical testing

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