ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8335C>A (p.Leu2779Met)

gnomAD frequency: 0.00004  dbSNP: rs760409547
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000440563 SCV000510686 uncertain significance not provided 2016-11-08 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV000467981 SCV000551736 benign Primary ciliary dyskinesia 2024-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000467981 SCV002676605 uncertain significance Primary ciliary dyskinesia 2016-06-24 criteria provided, single submitter clinical testing The p.L2779M variant (also known as c.8335C>A), located in coding exon 51 of the DNAH11 gene, results from a C to A substitution at nucleotide position 8335. The leucine at codon 2779 is replaced by methionine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6152 samples (12304 alleles) with coverage at this position. 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 variant remains unclear.

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