ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8720C>A (p.Pro2907His)

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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 RCV002449746 SCV002682299 uncertain significance Primary ciliary dyskinesia 2021-09-26 criteria provided, single submitter clinical testing The p.P2907H variant (also known as c.8720C>A), located in coding exon 53 of the DNAH11 gene, results from a C to A substitution at nucleotide position 8720. The proline at codon 2907 is replaced by histidine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002449746 SCV004614110 benign Primary ciliary dyskinesia 2024-01-27 criteria provided, single submitter clinical testing

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