Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470034 | SCV000546400 | uncertain significance | Primary ciliary dyskinesia | 2022-08-23 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 4214 of the DNAH8 protein (p.Thr4214Met). This variant is present in population databases (rs750394180, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. ClinVar contains an entry for this variant (Variation ID: 407303). 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: "Not Available"; Align-GVGD: "Class C65"). 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. |
Ambry Genetics | RCV002525556 | SCV003693386 | uncertain significance | Inborn genetic diseases | 2022-12-19 | criteria provided, single submitter | clinical testing | The c.12641C>T (p.T4214M) alteration is located in exon 84 (coding exon 83) of the DNAH8 gene. This alteration results from a C to T substitution at nucleotide position 12641, causing the threonine (T) at amino acid position 4214 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |