Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000629513 | SCV000750458 | uncertain significance | Primary ciliary dyskinesia | 2021-09-07 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with phenylalanine at codon 335 of the DNAI1 protein (p.Val335Phe). The valine residue is highly conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is present in population databases (rs11793196, ExAC 0.002%). This missense change has been observed in individual(s) with clinical features of DNAI1-related conditions (PMID: 30868567). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Institute Of Human Genetics Munich, |
RCV000995536 | SCV001149761 | likely pathogenic | Kartagener syndrome | 2018-07-19 | criteria provided, single submitter | clinical testing |