ClinVar Miner

Submissions for variant NM_178452.6(DNAAF1):c.1077G>A (p.Ala359=)

gnomAD frequency: 0.03388  dbSNP: rs35504640
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Total submissions: 6
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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 RCV000219088 SCV000268982 benign not specified 2015-05-05 criteria provided, single submitter clinical testing p.Ala359Ala in exon 8 of DNAAF1: This variant is not expected to have clinical s ignificance because it has been identified in 2.7% (1807/66732) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs35504640).
PreventionGenetics, part of Exact Sciences RCV000219088 SCV000316635 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094293 SCV000399152 benign Primary ciliary dyskinesia 13 2018-01-13 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000384826 SCV000561276 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001706217 SCV001833458 benign not provided 2019-03-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000384826 SCV002724787 benign Primary ciliary dyskinesia 2014-12-28 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.

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