ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.12890G>A (p.Arg4297Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003779712 SCV003901196 uncertain significance Primary ciliary dyskinesia 2023-08-11 criteria provided, single submitter clinical testing The p.R4297Q variant (also known as c.12890G>A), located in coding exon 78 of the DNAH11 gene, results from a G to A substitution at nucleotide position 12890. The arginine at codon 4297 is replaced by glutamine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779712 SCV004653369 benign Primary ciliary dyskinesia 2024-02-08 criteria provided, single submitter clinical testing

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