ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2504A>G (p.Lys835Arg)

gnomAD frequency: 0.00004  dbSNP: rs745305844
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000272070 SCV000468072 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000272070 SCV002741926 uncertain significance Primary ciliary dyskinesia 2022-06-22 criteria provided, single submitter clinical testing The p.K835R variant (also known as c.2504A>G), located in coding exon 14 of the DNAH11 gene, results from an A to G substitution at nucleotide position 2504. The lysine at codon 835 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. 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 alteration remains unclear.
Invitae RCV000272070 SCV004512178 benign Primary ciliary dyskinesia 2023-11-29 criteria provided, single submitter clinical testing

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