ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8093T>C (p.Leu2698Ser)

gnomAD frequency: 0.00053  dbSNP: rs187533108
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629268 SCV000750203 benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001555784 SCV001777251 uncertain significance not provided 2021-04-12 criteria provided, single submitter clinical testing Identified in the heterozygous state without a second DNAH11 variant in an individual with primary ciliary dyskinesia; this individual also harbored a single heterozygous variant in the GAS8 gene (De Jesus-Rojas et al., 2021); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 33670432)
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV000629268 SCV001810024 uncertain significance Primary ciliary dyskinesia 2021-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000629268 SCV002677642 uncertain significance Primary ciliary dyskinesia 2021-01-11 criteria provided, single submitter clinical testing The p.L2698S variant (also known as c.8093T>C), located in coding exon 49 of the DNAH11 gene, results from a T to C substitution at nucleotide position 8093. The leucine at codon 2698 is replaced by serine, an amino acid with dissimilar properties. 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 alteration remains unclear.

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