Submissions for variant NM_001277115.2(DNAH11):c.7295G>A (p.Arg2432Gln)

gnomAD frequency: 0.00016  dbSNP: rs769003090

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000553275	SCV000624164	benign	Primary ciliary dyskinesia	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000553275	SCV002668449	uncertain significance	Primary ciliary dyskinesia	2015-05-05	criteria provided, single submitter	clinical testing	The p.R2439Q variant (also known as c.7316G>A), located in coding exon 45 of the DNAH11 gene, results from a G to A substitution at nucleotide position 7316. The arginine at codon 2439 is replaced by glutamine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 5906 samples (11812 alleles) with coverage at this position. This amino acid position is not well conserved in available vertebrates and glutamine is the reference amino acid in several species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.