ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11260C>G (p.Gln3754Glu)

gnomAD frequency: 0.00009  dbSNP: rs372918576
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001320093 SCV001510864 benign Primary ciliary dyskinesia 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001320093 SCV002753931 uncertain significance Primary ciliary dyskinesia 2022-04-19 criteria provided, single submitter clinical testing The p.Q3754E variant (also known as c.11260C>G), located in coding exon 69 of the DNAH11 gene, results from a C to G substitution at nucleotide position 11260. The glutamine at codon 3754 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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