ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7325A>G (p.Lys2442Arg)

gnomAD frequency: 0.00080  dbSNP: rs114286628
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178568 SCV000230677 uncertain significance not provided 2014-05-07 criteria provided, single submitter clinical testing
Invitae RCV001088819 SCV000562002 likely benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
New York Genome Center RCV001836744 SCV002097932 uncertain significance Primary ciliary dyskinesia 7 2021-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001088819 SCV002669760 uncertain significance Primary ciliary dyskinesia 2015-12-15 criteria provided, single submitter clinical testing The p.K2442R variant (also known as c.7325A>G), located in coding exon 45 of the DNAH11 gene, results from an A to G substitution at nucleotide position 7325. The lysine at codon 2442 is replaced by arginine, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs114286628. Based on data from the 1000 Genomes Project, the G allele has an overall frequency of approximately 0.14% (3/2098) total alleles studied. The highest observed frequency was 1.14% (2/176) Yoruba alleles. Based on data from the NHLBI Exome Sequencing Project (ESP), the G allele has an overall frequency of approximately 0.05% (6/11828) total alleles studied, having been observed in 0.16% (6/3654) African American alleles. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by SIFT. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
PreventionGenetics, part of Exact Sciences RCV003917664 SCV004729500 likely benign DNAH11-related condition 2023-03-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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