Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000321005 | SCV000468162 | uncertain significance | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000321005 | SCV000624178 | likely benign | Primary ciliary dyskinesia | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000321005 | SCV002679157 | uncertain significance | Primary ciliary dyskinesia | 2021-10-25 | criteria provided, single submitter | clinical testing | The p.S2841G variant (also known as c.8521A>G), located in coding exon 52 of the DNAH11 gene, results from an A to G substitution at nucleotide position 8521. The serine at codon 2841 is replaced by glycine, an amino acid with similar properties. 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 alteration remains unclear. |
ARUP Laboratories, |
RCV003114514 | SCV003799879 | uncertain significance | Primary ciliary dyskinesia 7 | 2022-04-06 | criteria provided, single submitter | clinical testing | The DNAH11 c.8521A>G; p.Ser2841Gly variant (rs199789835), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 359657). This variant is found in the Ashkenazi Jewish population with an allele frequency of 0.77% (62/8092 alleles) in the Genome Aggregation Database. The serine at codon 2841 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.229). Due to limited information, the clinical significance of the p.Ser2841Gly variant is uncertain at this time. |
Ce |
RCV003437125 | SCV004163804 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | DNAH11: BP4 |