Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000319457 | SCV000468205 | uncertain significance | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000319457 | SCV000815452 | benign | Primary ciliary dyskinesia | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764704 | SCV000895838 | uncertain significance | Primary ciliary dyskinesia 7 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000319457 | SCV002746961 | uncertain significance | Primary ciliary dyskinesia | 2017-08-08 | criteria provided, single submitter | clinical testing | The p.V3750G variant (also known as c.11249T>G), located in coding exon 69 of the DNAH11 gene, results from a T to G substitution at nucleotide position 11249. The valine at codon 3750 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to betolerated by SIFT in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Clinical Genomics Laboratory, |
RCV000764704 | SCV004177173 | uncertain significance | Primary ciliary dyskinesia 7 | 2023-08-14 | criteria provided, single submitter | clinical testing | The DNAH11 c.11249T>G (p.Val3750Gly) variant, to our knowledge, has not been reported in the medical literature in an individual with primary ciliary dyskinesia but has been reported in the ClinVar database as a germline variant of uncertain significance by three submitters and a benign variant by one submitter. The overall minor allele frequency in the population database genome aggregation database (v.2.1.1) is 0.02% which is lower than the incidence of autosomal recessive primary ciliary dyskinesia. The valine at this codon is not conserved across vertebrates and computational predictors suggest that the variant does not impact DNAH11 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time. |