Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000386425 | SCV000468123 | uncertain significance | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000386425 | SCV001230108 | benign | Primary ciliary dyskinesia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000386425 | SCV002655150 | uncertain significance | Primary ciliary dyskinesia | 2021-05-14 | criteria provided, single submitter | clinical testing | The p.P2006L variant (also known as c.6017C>T), located in coding exon 35 of the DNAH11 gene, results from a C to T substitution at nucleotide position 6017. The proline at codon 2006 is replaced by leucine, an amino acid with similar properties. This variant was detected in the heterozygous state in an individual with normal ciliary ultrastructure, who also had a truncating variant in DNAH11 on a different allele; the clinical significance of this finding is unclear (Blanchon S et al. J Med Genet, 2020 04;57:237-244). This amino acid position is highly 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. |
Genetics and Molecular Pathology, |
RCV002466490 | SCV002761411 | uncertain significance | Primary ciliary dyskinesia 7 | 2019-08-27 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV002466490 | SCV003800557 | uncertain significance | Primary ciliary dyskinesia 7 | 2022-09-20 | criteria provided, single submitter | clinical testing | The DNAH11 c.6017C>T; p.Pro2006Leu variant (rs117803903) is reported in the literature in an individual with primary ciliary dyskinesia who harbored a truncating variant on the other DNAH11 allele (Blanchon 2020). This variant is also reported in ClinVar (Variation ID: 359639) and is found in the general population with an allele frequency of 0.013% (37/278,996 alleles) in the Genome Aggregation Database. The proline at codon 2006 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.351). Due to limited information, the clinical significance of the p.Pro2006Leu variant is uncertain at this time. References: Blanchon S et al. Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia. J Med Genet. 2020 Apr;57(4):237-244. PMID: 31772028. |