Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000284216 | SCV000468147 | uncertain significance | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000284216 | SCV001228588 | benign | Primary ciliary dyskinesia | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002264932 | SCV002546745 | uncertain significance | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV000284216 | SCV002674064 | uncertain significance | Primary ciliary dyskinesia | 2016-10-14 | criteria provided, single submitter | clinical testing | The p.V2518A variant (also known as c.7553T>C), located in coding exon 46 of the DNAH11 gene, results from a T to C substitution at nucleotide position 7553. The valine at codon 2518 is replaced by alanine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs141807661. Based on data from the 1000 Genomes Project, the C 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 C allele has an overall frequency of approximately 0.03% (4/12104) total alleles studied, having been observed in 0.1% (4/3836) African American alleles. This amino acid position is not well conserved in available vertebrate species, and alanine is the reference amino acid in other 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. |
Fulgent Genetics, |
RCV002504178 | SCV002801360 | uncertain significance | Primary ciliary dyskinesia 7 | 2022-02-21 | criteria provided, single submitter | clinical testing |