ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5846G>A (p.Arg1949Gln)

gnomAD frequency: 0.00001  dbSNP: rs761919869
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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 RCV000794798 SCV000934228 likely benign Primary ciliary dyskinesia 2023-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000794798 SCV002649895 uncertain significance Primary ciliary dyskinesia 2015-09-08 criteria provided, single submitter clinical testing The p.R1949Q variant (also known as c.5846G>A), located in coding exon 34 of the DNAH11 gene, results from a G to A substitution at nucleotide position 5846. The arginine at codon 1949 is replaced by glutamine, 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 6497 samples (12994 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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