ClinVar Miner

Submissions for variant NM_178452.6(DNAAF1):c.1750G>A (p.Asp584Asn)

gnomAD frequency: 0.00093  dbSNP: rs142345677
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243414 SCV000316653 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094304 SCV000399169 likely 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 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 RCV000365426 SCV000561283 benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000365426 SCV002711644 benign Primary ciliary dyskinesia 2016-01-11 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.
CeGaT Center for Human Genetics Tuebingen RCV003417861 SCV004145132 benign not provided 2022-06-01 criteria provided, single submitter clinical testing DNAAF1: BP4, BS1, BS2

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