Submissions for variant NM_001277115.2(DNAH11):c.8888C>A (p.Ser2963Tyr)

gnomAD frequency: 0.00047  dbSNP: rs374033085

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000289296	SCV000468167	uncertain significance	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000289296	SCV000624181	benign	Primary ciliary dyskinesia	2024-01-31	criteria provided, single submitter	clinical testing
Genetics and Molecular Pathology, SA Pathology	RCV002272215	SCV002556526	uncertain significance	Primary ciliary dyskinesia 7	2019-10-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000289296	SCV002687323	uncertain significance	Primary ciliary dyskinesia	2014-06-04	criteria provided, single submitter	clinical testing	The p.S2970Y variant (also known as c.8909C>A), located in coding exon 54 of the DNAH11 gene, results from a C to A substitution at nucleotide position 8909. The serine at codon 2970 is replaced by tyrosine, an amino acid with dissimilar properties. This variant was previously reported in the SNPDatabase as rs374033085. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele has an overall frequency of approximately 0.0 4% (5/11956) total alleles studied and 0.06% (5/8210) European American alleles. This variant was not identified in the homozygous state in 5,978 individuals studied. This amino acid position is conserved through mammals, but not in lower vertebrate species. In addition, this alteration is predicted to be probably damaging and deleterious by PolyPhen and SIFTin silicoanalyses, respectively. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV003437126	SCV004163807	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	DNAH11: BP4