ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2038G>A (p.Asp680Asn)

gnomAD frequency: 0.00016  dbSNP: rs201121146
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000293480 SCV000468061 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000293480 SCV000750396 benign Primary ciliary dyskinesia 2024-01-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731493 SCV000859320 uncertain significance not provided 2018-01-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335804 SCV001529041 uncertain significance Primary ciliary dyskinesia 7 2018-05-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
New York Genome Center RCV001335804 SCV002506650 uncertain significance Primary ciliary dyskinesia 7 2021-05-27 criteria provided, single submitter clinical testing The inherited heterozygous c.2038G>A (p.Asp680Asn) missense variant identified in the DNAH11 gene has not been reported in affected individuals in the literature. The variant has 0.0007167 allele frequency in the gnomAD(v3) database (109 out of 152078 heterozygous alleles, no homozygotes) suggesting it is not a common benign variant in the populations represented in that database. In silico tools provide conflicting predictions about potentialpathogenicity of this variant (CADD score = 21.3, REVEL score = 0.066). Based on the available evidence, the inherited heterozygous c.2038G>A(p.Asp680Asn) variant identified in the DNAH11 gene is reported as a variant of uncertain significance.
Ambry Genetics RCV000293480 SCV002720259 uncertain significance Primary ciliary dyskinesia 2018-09-10 criteria provided, single submitter clinical testing The p.D680N variant (also known as c.2038G>A), located in coding exon 12 of the DNAH11 gene, results from a G to A substitution at nucleotide position 2038. The aspartic acid at codon 680 is replaced by asparagine, 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.
Revvity Omics, Revvity RCV001335804 SCV003831704 uncertain significance Primary ciliary dyskinesia 7 2021-02-18 criteria provided, single submitter clinical testing

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