ClinVar Miner

Submissions for variant NM_018139.3(DNAAF2):c.728A>C (p.Glu243Ala)

gnomAD frequency: 0.00642  dbSNP: rs112044935
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248790 SCV000313206 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094141 SCV000386861 likely benign Primary ciliary dyskinesia 10 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000292351 SCV000562396 benign Primary ciliary dyskinesia 2025-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001709549 SCV001936961 benign not provided 2020-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000292351 SCV002672912 benign Primary ciliary dyskinesia 2015-04-08 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.
Breakthrough Genomics, Breakthrough Genomics RCV001709549 SCV005211984 likely benign not provided criteria provided, single submitter not provided

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