Submissions for variant NM_178452.6(DNAAF1):c.1296G>C (p.Glu432Asp)

gnomAD frequency: 0.07717  dbSNP: rs9972733

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000220947	SCV000268985	benign	not specified	2015-10-12	criteria provided, single submitter	clinical testing	p.Glu432Asp in exon 8 of DNAAF1: This variant is not expected to have clinical s ignificance because it has been identified in 20% (3315/16512) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs9972733).
PreventionGenetics, part of Exact Sciences	RCV000220947	SCV000316641	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000611118	SCV000399158	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000611118	SCV000745317	benign	Primary ciliary dyskinesia 13	2015-09-21	criteria provided, single submitter	clinical testing
Invitae	RCV000387263	SCV001000508	benign	Primary ciliary dyskinesia	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001706220	SCV001862965	benign	not provided	2019-02-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000387263	SCV002692881	benign	Primary ciliary dyskinesia	2014-12-11	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000611118	SCV000733522	benign	Primary ciliary dyskinesia 13		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000220947	SCV002037234	benign	not specified		no assertion criteria provided	clinical testing