ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2829T>G (p.Phe943Leu)

gnomAD frequency: 0.00009  dbSNP: rs367640600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001987864 SCV002225005 benign Primary ciliary dyskinesia 2023-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001987864 SCV002752586 uncertain significance Primary ciliary dyskinesia 2022-04-03 criteria provided, single submitter clinical testing The p.F943L variant (also known as c.2829T>G), located in coding exon 15 of the DNAH11 gene, results from a T to G substitution at nucleotide position 2829. The phenylalanine at codon 943 is replaced by leucine, 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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