ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10796A>G (p.Gln3599Arg)

gnomAD frequency: 0.00005  dbSNP: rs371437266
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001307464 SCV001496877 benign Primary ciliary dyskinesia 2023-10-26 criteria provided, single submitter clinical testing
GeneDx RCV001773615 SCV001992984 uncertain significance not provided 2019-06-28 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV001307464 SCV002729879 uncertain significance Primary ciliary dyskinesia 2021-08-04 criteria provided, single submitter clinical testing The p.Q3599R variant (also known as c.10796A>G), located in coding exon 66 of the DNAH11 gene, results from an A to G substitution at nucleotide position 10796. The glutamine at codon 3599 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.

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