Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000796916 | SCV000936451 | likely benign | Primary ciliary dyskinesia | 2024-01-13 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000796916 | SCV002724557 | uncertain significance | Primary ciliary dyskinesia | 2015-03-23 | criteria provided, single submitter | clinical testing | The p.N701S variant (also known as c.2102A>G), located in coding exon 12 of the DNAH11 gene, results from an A to G substitution at nucleotide position 2102. The asparagine at codon 701 is replaced by serine, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs369770445. Based on data from the NHLBI Exome Sequencing Project (ESP), the G allele has an overall frequency of approximately 0.03% (4/11768) total alleles studied, having been observed in 0.11% (4/3622) African American alleles. This amino acid position is 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 variant remains unclear |
| Ambry Genetics | RCV002534614 | SCV003682304 | uncertain significance | Inborn genetic diseases | 2022-01-07 | criteria provided, single submitter | clinical testing | The c.2102A>G (p.N701S) alteration is located in exon 12 (coding exon 12) of the DNAH11 gene. This alteration results from a A to G substitution at nucleotide position 2102, causing the asparagine (N) at amino acid position 701 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |