Submissions for variant NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg)

gnomAD frequency: 0.00314  dbSNP: rs115545935

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000216828	SCV000268838	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Gln478Arg in exon 11 of CCDC39: This variant is not expected to have clinical si gnificance because it has been identified in 4.5% (8/178) of English and Scottis h chromosomes from a broad population by the 1000 Genomes Project (http://www.nc bi.nlm.nih.gov/projects/SNP; dbSNP rs115545935).
PreventionGenetics, part of Exact Sciences	RCV000216828	SCV000316686	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000216828	SCV000334719	benign	not specified	2015-09-19	criteria provided, single submitter	clinical testing
Invitae	RCV001084837	SCV000561429	likely benign	Primary ciliary dyskinesia	2024-01-29	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514742	SCV000610581	likely benign	not provided	2017-05-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001143882	SCV001304445	likely benign	Primary ciliary dyskinesia 14	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000514742	SCV001796732	likely benign	not provided	2021-01-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25118008)
Ambry Genetics	RCV001084837	SCV002699251	benign	Primary ciliary dyskinesia	2017-02-14	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	RCV001143882	SCV003799700	likely benign	Primary ciliary dyskinesia 14	2023-10-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514742	SCV004149458	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	CCDC39: BP4, BS1