ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.12670A>G (p.Thr4224Ala)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002373416 SCV002684604 uncertain significance Primary ciliary dyskinesia 2022-03-03 criteria provided, single submitter clinical testing The p.T4224A variant (also known as c.12670A>G), located in coding exon 77 of the DNAH11 gene, results from an A to G substitution at nucleotide position 12670. The threonine at codon 4224 is replaced by alanine, 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.
Revvity Omics, Revvity RCV003146551 SCV003831723 uncertain significance Primary ciliary dyskinesia 7 2022-03-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002373416 SCV004549843 benign Primary ciliary dyskinesia 2024-07-16 criteria provided, single submitter clinical testing

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