ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2329C>T (p.Leu777Phe)

gnomAD frequency: 0.00003  dbSNP: rs1163253626
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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 RCV001972170 SCV002207550 likely benign Primary ciliary dyskinesia 2024-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001972170 SCV004056442 uncertain significance Primary ciliary dyskinesia 2023-06-29 criteria provided, single submitter clinical testing The p.L777F variant (also known as c.2329C>T), located in coding exon 14 of the DNAH11 gene, results from a C to T substitution at nucleotide position 2329. The leucine at codon 777 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. 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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