ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7604G>A (p.Arg2535His)

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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 RCV002396185 SCV002671834 uncertain significance Primary ciliary dyskinesia 2016-10-14 criteria provided, single submitter clinical testing The p.R2535H variant (also known as c.7604G>A), located in coding exon 46 of the DNAH11 gene, results from a G to A substitution at nucleotide position 7604. The arginine at codon 2535 is replaced by histidine, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs115598432. Based on data from the 1000 Genomes Project, the A allele has an overall frequency of approximately 0.05% (1/2098) total alleles studied. The highest observed frequency was 0.57% (1/176) Yoruba alleles. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele has an overall frequency of approximately 0.01% (1/12146) total alleles studied, having been observed in 0.03% (1/3876) African American alleles. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by SIFT in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002396185 SCV003272448 benign Primary ciliary dyskinesia 2024-01-17 criteria provided, single submitter clinical testing

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