ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.794G>A (p.Arg265His)

gnomAD frequency: 0.00029  dbSNP: rs192989152
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000290136 SCV000468041 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000290136 SCV001663748 likely benign Primary ciliary dyskinesia 2022-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000290136 SCV002676438 uncertain significance Primary ciliary dyskinesia 2014-09-10 criteria provided, single submitter clinical testing The p.R265H variant (also known as c.794G>A), located in coding exon 4 of the DNAH11 gene, results from a G to A substitution at nucleotide position 794. The arginine at codon 265 is replaced by histidine, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs192989152. Based on data from the 1000 Genomes Project, the A allele has an overall frequency of approximately 0.19% (4/2098) total alleles studied. The highest observed frequency was 2.25% (4/178) Japanese alleles. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele has an overall frequency of approximately 0.03% (3/11912) total alleles studied, having been observed in 0.05% (2/3726) African American alleles and 0.01% (1/8186) European American alleles. This amino acid position is not well conserved in available vertebrate 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.
PreventionGenetics, part of Exact Sciences RCV003972513 SCV004792460 likely benign DNAH11-related condition 2022-02-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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