ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8764T>C (p.Phe2922Leu)

gnomAD frequency: 0.00008  dbSNP: rs552567607
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000800156 SCV000939856 benign Primary ciliary dyskinesia 2023-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000800156 SCV004000308 uncertain significance Primary ciliary dyskinesia 2023-06-12 criteria provided, single submitter clinical testing The p.F2922L variant (also known as c.8764T>C), located in coding exon 53 of the DNAH11 gene, results from a T to C substitution at nucleotide position 8764. The phenylalanine at codon 2922 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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