ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2515C>G (p.Gln839Glu)

gnomAD frequency: 0.00001  dbSNP: rs1427132712
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526627 SCV000624119 likely benign Primary ciliary dyskinesia 2023-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000526627 SCV002741987 uncertain significance Primary ciliary dyskinesia 2021-07-01 criteria provided, single submitter clinical testing The p.Q839E variant (also known as c.2515C>G), located in coding exon 14 of the DNAH11 gene, results from a C to G substitution at nucleotide position 2515. The glutamine at codon 839 is replaced by glutamic acid, 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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