Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001350495 | SCV001544896 | likely benign | Primary ciliary dyskinesia | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001350495 | SCV002703660 | uncertain significance | Primary ciliary dyskinesia | 2020-03-03 | criteria provided, single submitter | clinical testing | The p.H505Y variant (also known as c.1513C>T), located in coding exon 8 of the DNAH11 gene, results from a C to T substitution at nucleotide position 1513. The histidine at codon 505 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is poorly 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. |
Johns Hopkins Genomics, |
RCV003485708 | SCV004239102 | uncertain significance | Primary ciliary dyskinesia 7 | 2024-01-12 | criteria provided, single submitter | clinical testing | This DNAH11 missense variant (rs771891040) is rare (<0.1%) in a large population dataset (gnomAD v4.0.0: 33/1612772 total alleles; 0.002%; 2 homozygotes). It has been reported in ClinVar (Variation ID 1045999), but has not been reported in the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be tolerated, and while the histidine residue at this position is evolutionarily conserved across many of the species assessed, several species have a different amino acid including some with tyrosine. We consider the clinical significance of c.1513C>T in DNAH11 to be uncertain at this time. |