ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.12569G>A (p.Gly4190Asp)

gnomAD frequency: 0.00008  dbSNP: rs374787771
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660496 SCV000782595 uncertain significance Primary ciliary dyskinesia 7 2017-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001036806 SCV001200189 benign Primary ciliary dyskinesia 2024-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV001036806 SCV004056449 uncertain significance Primary ciliary dyskinesia 2023-07-13 criteria provided, single submitter clinical testing The p.G4190D variant (also known as c.12569G>A), located in coding exon 77 of the DNAH11 gene, results from a G to A substitution at nucleotide position 12569. The glycine at codon 4190 is replaced by aspartic acid, an amino acid with 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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